|
1
|
Lequain H, Kodjikian L, Meunier I, Jamilloux Y, Sève P. [Monogenic autoinflammatory uveitis]. Rev Med Interne 2025; 46:341-347. [PMID: 40140330 DOI: 10.1016/j.revmed.2025.03.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/21/2024] [Revised: 02/27/2025] [Accepted: 03/10/2025] [Indexed: 03/28/2025]
Abstract
Monogenic autoinflammatory uveitis belongs to the spectrum of monogenic autoinflammatory diseases. When early-onset uveitis is associated with specific extra-ocular manifestations, particularly in a familial or geographical context, it guides the clinician towards a diagnosis of a monogenic autoinflammatory disease. The clinical presentation and mode of inheritance will help identify the underlying cause, and the detection of a pathogenic variant will confirm the diagnosis and guide the management approach. In this review, we outline the main monogenic autoinflammatory uveitis conditions that clinicians should be aware of: Blau syndrome, ROSAH syndrome, cryopyrin-associated periodic syndromes (CAPS), partial mevalonate kinase deficiency, A20 haploinsufficiency, and NEMO syndrome.
Collapse
Affiliation(s)
- Hippolyte Lequain
- Department of Internal Medicine, Centre de Référence des Maladies Auto-Inflammatoires et de l'Amylose inflammatoire (CéRéMAIA), Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, Lyon, France
| | - Laurent Kodjikian
- Department of Ophthalmology, Uveitis Clinic, Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Lyon, France; UMR-CNRS 5510 Matéis, université Claude-Bernard Lyon 1, Villeurbanne, France
| | - Isabelle Meunier
- Inserm, National Reference Centre for Inherited Sensory Diseases, University of Montpellier, CHU, Montpellier, France
| | - Yvan Jamilloux
- Department of Internal Medicine, Centre de Référence des Maladies Auto-Inflammatoires et de l'Amylose inflammatoire (CéRéMAIA), Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, Lyon, France
| | - Pascal Sève
- Department of Internal Medicine, Centre de Référence des Maladies Auto-Inflammatoires et de l'Amylose inflammatoire (CéRéMAIA), Hôpital de la Croix-Rousse, Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, Lyon, France; Pôle IMER, Lyon, France; HESPER EA 7425, Lyon, France.
| |
Collapse
|
|
2
|
Vinekar A, Wu WC, Lorenz B, Bavaskar S, Berrocal A, Lopez-Cañizares A, Fung N, Lam WC, M.llop S, Mangalesh S, Ozdek S, Toth C. Rare pediatric retinal diseases: A review. Indian J Ophthalmol 2025; 73:622-636. [PMID: 40272290 PMCID: PMC12121860 DOI: 10.4103/ijo.ijo_1542_24] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2024] [Revised: 10/20/2024] [Accepted: 02/17/2025] [Indexed: 04/25/2025] Open
Abstract
Rare pediatric retinal disorders present significant challenges in diagnosis and management due to their limited prevalence and diverse clinical manifestations. This paper provides a comprehensive review of select rare retinal disorders affecting the pediatric population, focussing a brief on their epidemiology, clinical characteristics, diagnostic modalities, and therapeutic interventions. Through a systematic examination of current literature and clinical case studies, this review aims to elucidate the distinct features and challenges associated with each disorder. Despite the rarity of these conditions, their impact on visual function and quality of life necessitates heightened awareness among clinicians and researchers to facilitate timely diagnosis, appropriate management, and improved outcomes for affected children as their visual systems are still developing. Furthermore, advancements in diagnostic modalities such as fundus fluorescein angiography, optical coherence tomography, electroretinography, and genetic testing are examined for their role in enhancing our understanding of rare pediatric retinal disorders and facilitating early intervention strategies. The literature selection for this article was conducted through PubMed, Google Scholar, and the Cochrane Library databases. A thorough systematic search was carried out for the concerned diseases. Relevant review articles, original research studies, case series, and reports were examined. Additionally, references from these sources were reviewed and included if they provided pertinent information on the topic. The search was not restricted by publication date.
Collapse
Affiliation(s)
- Anand Vinekar
- Department of Pediatric Retina, Narayana Nethralaya Eye Institute, Bengaluru, Karnataka, India
| | - Wei-Chi Wu
- Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, and College of Medicine, Chang Gung University, Taoyuan, Taiwan
| | - Birgit Lorenz
- Department of Ophthalmology, University Hospital Bonn, Germany
| | - Snehal Bavaskar
- Medical and Paediatric Retina, Narayana Nethralaya, Karnataka, India
| | | | - Ashley Lopez-Cañizares
- Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA, United States
| | - Nicholas Fung
- Department of Ophthalmology, Vancouver Acute, University of British Columbia, Canada
| | - Wai Ching Lam
- Department of Ophthalmology, Vancouver Acute, University of British Columbia, Canada
| | - Stephanie M.llop
- Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA, United States
| | - Shwetha Mangalesh
- Department of Ophthalmology, Duke Eye Institute, Durham, North Carolina, USA, United States
| | - Sengul Ozdek
- Department of Ophthalmology, Gazi University, School of Medicine, Ankara, Turkey
| | - Cynthia Toth
- Department of Ophthalmology, Duke Eye Institute, Durham, North Carolina, USA, United States
| |
Collapse
|
|
3
|
Pipko N, Oh RY, Kaplan A, Shugar A, Szuto A, Weinstein M, Yoon G, Mendoza-Londono R, Pope E, Young T, Marshall CR, Costain G, Lara-Corrales I, Wang Y. Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti. Br J Dermatol 2025; 192:933-935. [PMID: 39579378 DOI: 10.1093/bjd/ljae462] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/16/2024] [Revised: 10/27/2024] [Accepted: 11/18/2024] [Indexed: 11/25/2024]
Abstract
Using genome sequencing, we identified novel structural variants in the IKBKG gene in two patients affected by incontinentia pigmenti (IP). As a large proportion of patients with IP do not have a molecular diagnosis, and new variants remain to be identified. Emerging technologies, such as long-read sequencing, hold promise for further advancing the molecular diagnosis of IP.
Collapse
Affiliation(s)
- Neta Pipko
- Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, ON, Canada
| | - Rachel Youjin Oh
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
| | - Aiyana Kaplan
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
| | - Andrea Shugar
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
| | - Anna Szuto
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
| | - Miriam Weinstein
- Division of Dermatology, The Hospital for Sick Children, Toronto, ON, Canada
| | - Grace Yoon
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
- Department of Paediatrics, University of Toronto, Toronto, ON, Canada
| | - Roberto Mendoza-Londono
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
- Department of Paediatrics, University of Toronto, Toronto, ON, Canada
| | - Elena Pope
- Division of Dermatology, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Paediatrics, University of Toronto, Toronto, ON, Canada
| | - Ted Young
- Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
| | - Christian R Marshall
- Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, ON, Canada
- Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
| | - Gregory Costain
- Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, ON, Canada
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
- Department of Paediatrics, University of Toronto, Toronto, ON, Canada
| | - Irene Lara-Corrales
- Division of Dermatology, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Paediatrics, University of Toronto, Toronto, ON, Canada
| | - Yiming Wang
- Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, ON, Canada
- Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
- Department of Paediatrics, University of Toronto, Toronto, ON, Canada
| |
Collapse
|
|
4
|
Cifaldi C, Sgrulletti M, Cesare SD, Rivalta B, Emanuele A, Colucci L, Moscato GMF, Matraxia M, Perrone C, Di Matteo G, Cancrini C, Moschese V. Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti. J Clin Med 2025; 14:363. [PMID: 39860371 PMCID: PMC11765721 DOI: 10.3390/jcm14020363] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/09/2024] [Revised: 12/20/2024] [Accepted: 01/06/2025] [Indexed: 01/27/2025] Open
Abstract
Background/Objectives: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic IKBKG pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic IKBKG variants could be responsible for Incontinentia Pigmenti (IP) in female carriers. Typically, IP patients do not exhibit immunodeficiency, although hypomorphic variants might lead to immunodeficiency in female IP patients. Here, we report the case of an IKBKG female carrier, with no IP but an unexpected picture of immunodeficiency. She had a positive family history for the same genetic condition. Methods: We performed immunological, molecular, and functional analysis to evaluate NEMO contribution. Results: The patient was healthy until the age of 25 when severe asthma and Hashimoto thyroiditis occurred. She had HLAB27-positive ankylosing spondylitis, non-tubercular mycobacteriosis, and pulmonary aspergillosis infections. We found CD19+ B cell lymphopenia and T cell subset alterations. Sanger sequencing revealed a heterozygous IKBKG variant at position +1 of the 5' UTR of the gene which disrupted the normal pre-mRNA splicing. We observed a decreased NEMO protein expression, a reduced level of mRNA, and a defective NF-κB pathway. Conclusions: These findings suggest a possible correlation between the partial loss of NEMO function and the immunodeficiency observed in this patient. This case could expand our understanding of NEMO deficiency in female carriers.
Collapse
Affiliation(s)
- Cristina Cifaldi
- Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy; (C.C.); (G.M.F.M.); (G.D.M.); (C.C.)
| | - Mayla Sgrulletti
- Pediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, 00133 Rome, Italy;
- PhD Program in Immunology, Molecular Medicine and Applied Biotechnology, University of Rome Tor Vergata, 00133 Rome, Italy
| | - Silvia Di Cesare
- Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, 00165 Rome, Italy;
| | - Beatrice Rivalta
- Research Unit of Primary Immunodeficiency, IRCCS Bambino Gesù Children Hospital, 00165 Rome, Italy; (B.R.); (L.C.)
| | - Agolini Emanuele
- Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, 00165 Rome, Italy; (A.E.); (M.M.); (C.P.)
| | - Lucia Colucci
- Research Unit of Primary Immunodeficiency, IRCCS Bambino Gesù Children Hospital, 00165 Rome, Italy; (B.R.); (L.C.)
| | - Giusella Maria Francesca Moscato
- Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy; (C.C.); (G.M.F.M.); (G.D.M.); (C.C.)
- Pediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, 00133 Rome, Italy;
| | - Marta Matraxia
- Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, 00165 Rome, Italy; (A.E.); (M.M.); (C.P.)
| | - Chiara Perrone
- Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital IRCCS, 00165 Rome, Italy; (A.E.); (M.M.); (C.P.)
| | - Gigliola Di Matteo
- Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy; (C.C.); (G.M.F.M.); (G.D.M.); (C.C.)
- Research Unit of Primary Immunodeficiency, IRCCS Bambino Gesù Children Hospital, 00165 Rome, Italy; (B.R.); (L.C.)
| | - Caterina Cancrini
- Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy; (C.C.); (G.M.F.M.); (G.D.M.); (C.C.)
- Research Unit of Primary Immunodeficiency, IRCCS Bambino Gesù Children Hospital, 00165 Rome, Italy; (B.R.); (L.C.)
| | - Viviana Moschese
- Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy; (C.C.); (G.M.F.M.); (G.D.M.); (C.C.)
- Pediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, 00133 Rome, Italy;
| |
Collapse
|
|
5
|
Vijaikumar M, Saravanan Y, Christin Armel JS. Incontinentia Pigmenti-Dermoscopy Features of Early Evolving Disease. Indian Dermatol Online J 2025; 16:212-214. [PMID: 39850693 PMCID: PMC11753548 DOI: 10.4103/idoj.idoj_179_24] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/27/2024] [Revised: 06/02/2024] [Accepted: 07/03/2024] [Indexed: 01/25/2025] Open
Affiliation(s)
- M Vijaikumar
- Department of Skin and STD (Dermatology), Indira Gandhi Government General Hospital and Post Graduate Institute (IGGGH and PGI), Puducherry, India
| | - Youvalakshmi Saravanan
- Department of Dermatology and Venereology, Sri Manakula Vinayagar Medical College and Hospital, Puducherry, India
| | - J Sheron Christin Armel
- Department of Dermatology and Venereology, Pondicherry Institute of Medical Sciences, Puducherry, India
| |
Collapse
|
|
6
|
Herlin LK, Schmidt SAJ, Mogensen TH, Sommerlund M. Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study. Orphanet J Rare Dis 2024; 19:454. [PMID: 39623400 PMCID: PMC11613904 DOI: 10.1186/s13023-024-03480-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/22/2024] [Accepted: 11/22/2024] [Indexed: 12/06/2024] Open
Abstract
BACKGROUND Incontinentia pigmenti (IP) is an X-linked dominant multisystemic disorder caused by pathogenic variants in the IKBKG gene. Population-based research into the epidemiology of IP is lacking. METHODS This nationwide cross-sectional study from Jan 1st, 1995 to August 25th, 2021, searched the Danish National Patient Registry (DNPR), the Danish National Database of Rare Genetic Diseases (RareDis) and the Danish Genodermatosis Database to identify patients recorded with a diagnosis of IP. This search was followed by diagnosis validation and collection of clinical data from patient medical records. We investigated the clinical characteristics and genetics of the final cohort of validated IP cases. We estimated the point prevalence in the Danish population, based on non-deceased IP patients currently living in Denmark. Furthermore, we estimated the birth prevalence from 1995 to 2020, assuming a diagnostic delay of up to six months. RESULTS We identified a validated cohort of 75 IP patients, including 71 (94.7%) females and 4 (5.3%) males. We estimated a birth prevalence of 2.37 (95% CI: 1.74-3.25) per 100,000 or 1 in 42,194. A total of 54 (72%) patients had a genetic diagnosis, including 39 (72.2%) with the recurrent exon 4-10 deletion and 10 (18.5%) with point mutations in IKBKG. A positive family history was reported in 53.3%. Besides the recognizable blaschkolinear skin lesions reported in 70 (93.3%) of the patients, commonly reported manifestations included the involvement of the teeth (58.7%), the central nervous system (30.7%), hair (26.7%), and eyes (22.6%), as well as nail dystrophy (16.0%). CONCLUSIONS We identified and characterized a nationwide population-based cohort of IP patients and report a birth prevalence of 2.37 per 100,000 live births, which is twice as high as previous estimates.
Collapse
Affiliation(s)
- Laura Krogh Herlin
- Department of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark.
- Department of Clinical Medicine, Aarhus University, Building A, Palle Juul-Jensens Boulevard 99, Aarhus N, Denmark.
| | - Sigrun Alba Johannesdottir Schmidt
- Department of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark
- Department of Clinical Epidemiology, Aarhus University Hospital and Aarhus University, Olof Palmes Allé 43-45, Aarhus N, 8200, Denmark
| | - Trine H Mogensen
- Department of Biomedicine, Aarhus University, Aarhus, Denmark
- Department of Infectious Diseases, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, Denmark
| | - Mette Sommerlund
- Department of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark
- Department of Clinical Medicine, Aarhus University, Building A, Palle Juul-Jensens Boulevard 99, Aarhus N, Denmark
| |
Collapse
|
|
7
|
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL. Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases. J Exp Med 2024; 221:e20231152. [PMID: 39352576 PMCID: PMC11448874 DOI: 10.1084/jem.20231152] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/06/2023] [Revised: 07/17/2024] [Accepted: 08/27/2024] [Indexed: 10/05/2024] Open
Abstract
Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-α and/or IFN-ω, a proportion 23 times higher than that for age-matched female controls. This proportion remains stable from the age of 6 years onward. On imaging, female patients with IP have a small, abnormally structured thymus. Auto-Abs against type I IFNs confer a predisposition to life-threatening viral diseases. By contrast, patients with IP lacking auto-Abs against type I IFNs are at no particular risk of viral disease. These results suggest that IP accelerates thymic involution, thereby underlying the production of auto-Abs neutralizing type I IFNs in at least a third of female patients with IP, predisposing them to life-threatening viral diseases.
Collapse
Affiliation(s)
- Jérémie Rosain
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
- Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France
| | - Tom Le Voyer
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
- Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France
| | - Xian Liu
- Diabetes Center, University of California San Francisco , San Francisco, CA, USA
| | - Adrian Gervais
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Laura Polivka
- Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France
- Reference Center for Mastocytosis (CEREMAST), Necker Hospital for Sick Children, AP-HP , Paris, France
| | - Axel Cederholm
- Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
| | - Laureline Berteloot
- Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France
| | - Audrey V Parent
- Diabetes Center, University of California San Francisco , San Francisco, CA, USA
| | - Alessandra Pescatore
- Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy
| | - Ezia Spinosa
- Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy
| | - Snezana Minic
- Clinics of Dermatovenerology, Clinical Center of Serbia , Belgrade, Serbia
- School of Medicine, University of Belgrade , Belgrade, Serbia
| | - Ana Elisa Kiszewski
- Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil
- Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil
| | - Miyuki Tsumura
- Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan
| | - Chloé Thibault
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Maria Esnaola Azcoiti
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Jelena Martinovic
- Unit of Fetal Pathology, Hospital Antoine Béclère, Paris Saclay University , Paris, France
| | - Quentin Philippot
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Taushif Khan
- Department of Immunology, Sidra Medicine, Doha, Qatar
| | - Astrid Marchal
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | | | - Lucy Bizien
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Caroline Deswarte
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Lillia Hadjem
- Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France
| | | | - Karim Dorgham
- Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France
| | - Daniel Eriksson
- Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
| | - Emilia Liana Falcone
- Center for Immunity, Inflammation and Infectious Diseases, Montréal Clinical Research Institute (IRCM) , Montréal, Canada
- Department of Medicine, Montréal University, Montréal, Canada
| | - Mathilde Puel
- Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France
| | - Sinem Ünal
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Amyrath Geraldo
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Corentin Le Floc'h
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Hailun Li
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Sylvie Rheault
- Department of Medicine, Montréal University, Montréal, Canada
- Center of Research of the Geriatric University Institute of Montréal, University of Montréal , Montréal, Canada
| | - Christine Muti
- Department of Genetics, André Mignot Hospital, Versailles, France
| | | | - Anne Welfringer-Morin
- Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France
| | - Ramsay L Fuleihan
- Department of Pediatrics, Columbia University Medical Center, New York, NY, USA
| | - Romain Lévy
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
- Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France
| | - Marie Roelens
- Imagine Institute, University of Paris Cité , Paris, France
- Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France
| | - Liwei Gao
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Marie Materna
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Silvia Pellegrini
- Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy
| | - Lorenzo Piemonti
- Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy
| | | | - Jean-Christophe Goffard
- Internal Medicine, Brussels University Hospital, Free University of Brussels, Anderlecht, Belgium
| | - Arnaud Fekkar
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- Department of Parasitology Mycology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France
| | - Aissata Sacko-Sow
- Department of Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France
| | - Camille Soudée
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Soraya Boucherit
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Anna-Lena Neehus
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Cristina Has
- Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany
- European Reference Network (ERN) for Rare and Undiagnosed Skin Disorders
| | - Stefanie Hübner
- Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany
| | - Géraldine Blanchard-Rohner
- Unit of Immunology, Vaccinology, and Rheumatology, Division of General Pediatrics, Department of Woman, Child, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland
| | - Blanca Amador-Borrero
- Internal Medicine Department, Lariboisière Hospital, AP-HP, University of Paris Cité, Paris, France
| | - Takanori Utsumi
- Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan
| | - Maki Taniguchi
- Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan
| | - Hiroo Tani
- Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan
- Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan
| | - Kazushi Izawa
- Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
| | - Takahiro Yasumi
- Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
| | - Sotaro Kanai
- Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan
| | - Mélanie Migaud
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
| | - Mélodie Aubart
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France
| | - Nathalie Lambert
- Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France
| | - Guy Gorochov
- Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France
- Department of Immunology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France
| | - Capucine Picard
- Imagine Institute, University of Paris Cité , Paris, France
- Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France
- Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France
| | - Claire Soudais
- Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France
| | - Anne-Sophie L'Honneur
- Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France
| | - Flore Rozenberg
- Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France
| | - Joshua D Milner
- Department of Pediatrics, Columbia University Medical Center, New York, NY, USA
| | - Shen-Ying Zhang
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Pierre Vabres
- MAGEC Reference Center for Rare Skin Diseases, Dijon Bourgogne University Hospital, Dijon, France
| | - Dusan Trpinac
- Institute of Histology and Embryology, School of Medicine, University of Belgrade , Belgrade, Serbia
| | - Nico Marr
- Department of Immunology, Sidra Medicine, Doha, Qatar
- College of Health and Life Sciences, Hamad Bin Khalifa University , Doha, Qatar
| | - Nathalie Boddaert
- Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France
| | - Isabelle Desguerre
- Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France
| | | | - Corey N Miller
- Diabetes Center, University of California San Francisco , San Francisco, CA, USA
| | | | - Laurent Abel
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Satoshi Okada
- Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan
| | - Emmanuelle Jouanguy
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Rémi Cheynier
- University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France
| | - Qian Zhang
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Aurélie Cobat
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Vivien Béziat
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Bertrand Boisson
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Julie Steffann
- Department of Genomic Medicine, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France
| | - Francesca Fusco
- Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy
| | - Matilde Valeria Ursini
- Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy
| | - Smail Hadj-Rabia
- Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France
| | - Christine Bodemer
- Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France
| | - Jacinta Bustamante
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
- Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France
| | - Hervé Luche
- Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France
| | - Anne Puel
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
| | - Gilles Courtois
- University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France
| | - Paul Bastard
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
- Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France
| | - Nils Landegren
- Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden
- Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden
| | - Mark S Anderson
- Diabetes Center, University of California San Francisco , San Francisco, CA, USA
| | - Jean-Laurent Casanova
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France
- Imagine Institute, University of Paris Cité , Paris, France
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
- Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France
- Howard Hughes Medical Institute , New York, NY, USA
| |
Collapse
|
|
8
|
Rosser T. Incontinentia pigmenti. Semin Pediatr Neurol 2024; 51:101156. [PMID: 39389657 DOI: 10.1016/j.spen.2024.101156] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/07/2024] [Revised: 09/08/2024] [Accepted: 09/10/2024] [Indexed: 10/12/2024]
Abstract
Incontinentia pigmenti (IP) is a rare X-linked dominant, multi-system genetic disorder characterized by evolving skin lesions that occurs almost exclusively in females. Additional manifestations most often involve embryologically-derived ectodermal tissues including the central nervous system (CNS), eyes, hair, teeth and nails. IP is associated with a wide range of neurologic abnormalities, several of which can be associated with significant morbidity. In the neonatal period, while the pathophysiology is poorly understood, inflammatory microvascular changes can lead to ischemic strokes in non-vascular territories and acute disseminated encephalomyelitis, resulting in serious chronic neurologic sequelae such as epilepsy, cerebral palsy and intellectual disability. Additional neuroimaging findings may include periventricular and subcortical white matter abnormalities and cerebral as well as cerebellar dysgenesis. Advancements over time have allowed for improved phenotyping, identification of the causative IKBKG pathogenic variant, creation and refinement of clinical diagnostic criteria and the development of management guidelines which promote multi-disciplinary care. Due to frequent CNS involvement, neurologists play a critical role in the treatment of individuals with IP throughout the lifespan.
Collapse
Affiliation(s)
- Tena Rosser
- Children's Hospital Los Angeles, Division of Neurology, 46450 Sunset Blvd, MS#82, Los Angeles, CA 90027, USA.
| |
Collapse
|
|
9
|
Çetinarslan T, Masat AK, Türel Ermertcan A, Fölster Holst R. Whorled Scarring Alopecia: A Rare Cutaneous Finding in Incontinentia Pigmenti or Overlooked Phenomenon? A Case Report of Incontinentia Pigmenti with Trichoscopic and Dermoscopic Findings. Acta Derm Venereol 2024; 104:adv40270. [PMID: 38860626 PMCID: PMC11181917 DOI: 10.2340/actadv.v104.40270] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/03/2024] [Accepted: 05/29/2024] [Indexed: 06/12/2024] Open
Abstract
Abstract is missing (Short Communication)
Collapse
Affiliation(s)
- Tubanur Çetinarslan
- Manisa Celal Bayar University, Department of Dermatology and Venereology, Manisa, Turkey.
| | - Abdullah Kutay Masat
- Manisa Celal Bayar University, Department of Dermatology and Venereology, Manisa, Turkey
| | - Aylin Türel Ermertcan
- Manisa Celal Bayar University, Department of Dermatology and Venereology, Manisa, Turkey
| | - Regina Fölster Holst
- Department of Dermatology-Venereology and Allergology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany
| |
Collapse
|
|
10
|
Herlin LK, Sørensen SB, Graakjaer JA, Andersen S, Schmidt SAJ, Sommerlund M, Mogensen TH. NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections. J Clin Immunol 2024; 44:136. [PMID: 38795145 DOI: 10.1007/s10875-024-01737-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/09/2024] [Accepted: 05/16/2024] [Indexed: 05/27/2024]
Affiliation(s)
- Laura Krogh Herlin
- Department of Dermatology, Aarhus University Hospital, Palle Juul Jensens Boulevard 67, Aarhus N, 8200, Denmark.
- Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
| | | | | | - Sisse Andersen
- Department of Biomedicine, Aarhus University, Aarhus, Denmark
| | - Sigrun Alba Johannesdottir Schmidt
- Department of Dermatology, Aarhus University Hospital, Palle Juul Jensens Boulevard 67, Aarhus N, 8200, Denmark
- Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, Denmark
| | - Mette Sommerlund
- Department of Dermatology, Aarhus University Hospital, Palle Juul Jensens Boulevard 67, Aarhus N, 8200, Denmark
- Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
| | - Trine H Mogensen
- Department of Biomedicine, Aarhus University, Aarhus, Denmark
- Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark
| |
Collapse
|
|
11
|
Dev A, Malhi K, Mahajan R. Ectodermal Dysplasia - An Overview and Update. Indian Dermatol Online J 2024; 15:405-414. [PMID: 38845644 PMCID: PMC11152464 DOI: 10.4103/idoj.idoj_599_23] [Citation(s) in RCA: 5] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/05/2023] [Revised: 12/26/2023] [Accepted: 12/28/2023] [Indexed: 06/09/2024] Open
Abstract
Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.
Collapse
Affiliation(s)
- Anubha Dev
- Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
| | - Kittu Malhi
- Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
| | - Rahul Mahajan
- Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
| |
Collapse
|
|
12
|
Chen H, Ji X, Lai Y, Xie L, Wan C, Li L. Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases. Front Med (Lausanne) 2023; 10:1303590. [PMID: 38173938 PMCID: PMC10764103 DOI: 10.3389/fmed.2023.1303590] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2023] [Accepted: 12/05/2023] [Indexed: 01/05/2024] Open
Abstract
Incontinentia pigmenti (IP), an X-chromosome dominant genodermatosis caused by mutations in the IKBKG/NEMO gene, is a rare disease affecting the skin, teeth, eyes, and central nervous system. Here, we report two pedigrees of IP and detection of two novel mutations in the IKBKG gene associated with IP via genetic analysis. In addition, different gene mutation types can present with different clinical phenotypes, and the same gene mutation type can show different clinical phenotypes. This study provides clinical cases for further study of the genotype and phenotype of IP and enriches the mutation spectrum of IKBKG gene, which provides a basis for genetic counseling and genetic diagnosis of IP in the future.
Collapse
Affiliation(s)
| | | | | | | | - Chunlei Wan
- Department of Dermatology and Venereology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, The First Affiliated Hospital of Gannan Medical University, Ganzhou, China
| | - Longnian Li
- Department of Dermatology and Venereology, Candidate Branch of National Clinical Research Centre for Skin and Immune Diseases, The First Affiliated Hospital of Gannan Medical University, Ganzhou, China
| |
Collapse
|
|
13
|
Mou W, Zhao Z, Gao L, Fu L, Li J, Jiao A, Peng Y, Yu T, Guo Y, Chen L, Wang H, Liu J, Qin Q, Xu B, Liu X, He J, Gui J. An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation. J Clin Immunol 2023; 43:2165-2180. [PMID: 37831401 DOI: 10.1007/s10875-023-01564-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2022] [Accepted: 08/02/2023] [Indexed: 10/14/2023]
Abstract
While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported instances of missense mutations of the IKBKG gene causing both Incontinentia Pigmenti (IP) and immunodeficiency in female patients. In this study, we described an atypical IP case in a 19-year-old girl, characterized by hyperpigmented and verrucous skin areas over the entire body. Remarkably, she experienced recurrent red papules whenever she had a feverish upper respiratory tract infection. Immunohistochemical staining unveiled a substantial accumulation of CD68+ macrophages alongside the TNF-α positive cells in the dermis tissue of new pustules, with increased apoptotic basal keratinocytes in the epidermis tissue of these lesions. Starting from the age of 8 years old, the patient suffered from severe and sustained chronic respiratory mucous membrane scar hyperplasia and occluded subglottic lumen. In addition to elevated erythrocyte sedimentation rate values, inflammatory cells were observed in the pathologic lesions of endobronchial biopsies and Bronchoalveolar Lavage Fluid (BALF) smear. Further histological analysis revealed a destructive bronchus epithelium integrity with extensive necrosis. Simultaneously, the patient experienced recurrent incomplete intestinal obstructions and lips contracture. The patient's BALF sample displayed an augmented profile of proinflammatory cytokines and chemokines, suggesting a potential link to systemic hyperinflammation, possibly underlying the pathogenic injuries affecting the subglottic, respiratory, and digestive systems. Furthermore, the patient presented with recurrent pneumonias and multiple warts accompanied by a T+BlowNKlow immunophenotype. Next generation sequencing showed that the patient carried a novel de novo germline heterozygous missense mutation in the IKBKG gene (c. 821T>C, p. L274P), located in the highly conserved CC2 domain. TA-cloning sequencing of patient's cDNA yielded 30 mutant transcripts out of 44 clones. In silico analysis indicated that the hydrogen bond present between Ala270 and Leu274 in the wild-type NEMO was disrupted by the Leu274Pro mutation. However, this mutation did not affect NEMO expression in peripheral blood mononuclear cells (PBMCs). Moreover, patient PBMCs exhibited significantly impaired TNF-α production following Lipopolysaccharide (LPS) stimulation. X-chromosome inactivation in T cells and neutrophils were not severely skewed. Reduced levels of IκBα phosphorylation and degradation in patient's PBMCs were observed. The NF-κB luciferase reporter assay conducted using IKBKG-deficient HEK293T cells revealed a significant reduction in NF-kB activity upon LPS stimulation. These findings adds to the ever-growing knowledge on female IP that might contribute to the better understanding of this challenging disorder.
Collapse
Affiliation(s)
- Wenjun Mou
- Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China
| | - Zhipeng Zhao
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Liwei Gao
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Libing Fu
- Department of Pathology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China
| | - Jia Li
- Department of Pathology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China
| | - Anxia Jiao
- Department of Interventional Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Yun Peng
- Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China
| | - Tong Yu
- Department of Radiology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China
| | - Yan Guo
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Lanqin Chen
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Hao Wang
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Jun Liu
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Qiang Qin
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Baoping Xu
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China
| | - Xiuyun Liu
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
| | - Jianxin He
- Department of Pulmonology, Beijing Children's Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children's Health, Beijing, 100045, China.
| | - Jingang Gui
- Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
| |
Collapse
|
|
14
|
Coman A, Murtagh P, Horgan N. Retinal vasoproliferative tumour: differential diagnoses and treatment considerations in a paediatric patient. BMJ Case Rep 2023; 16:e254859. [PMID: 37669818 PMCID: PMC10481748 DOI: 10.1136/bcr-2023-254859] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 09/07/2023] Open
Abstract
An early adolescent man was referred to the ocular oncology service for evaluation of a pale, raised fundus lesion in the inferotemporal quadrant of his right eye. Unaided visual acuities were 20/20 OD and 20/20 OS. He had no medical, ocular or family history of note. Retinal vasoproliferative tumour with progressive retinal exudation was the working diagnosis. Improvement in tumour features and exudation regression were noted following a combination of argon laser therapy, cryotherapy and intravitreal steroid injection. Paediatric intraocular tumours present a complex list of differential diagnoses and offer significant diagnostic and management challenges. Discussed here are the differential diagnoses and treatment considerations in the setting of an intraocular tumour in childhood.
Collapse
Affiliation(s)
- Amy Coman
- Ophthalmology, St Vincent's University Hospital, Dublin, Ireland
- Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland
| | - Patrick Murtagh
- Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland
| | - Noel Horgan
- Ophthalmology, St Vincent's University Hospital, Dublin, Ireland
- Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland
| |
Collapse
|
|
15
|
Xie L, Zhu Y, He L, Yu B, Wang J, Fan R, Mo X, Zhang Y, Xie T. Case report: A case of incontinentia pigmenti. Front Med (Lausanne) 2023; 10:1164394. [PMID: 37250637 PMCID: PMC10213322 DOI: 10.3389/fmed.2023.1164394] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/12/2023] [Accepted: 04/05/2023] [Indexed: 05/31/2023] Open
Abstract
Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by mutations in the IKBKG gene. We present a case of a 4-month-old female infant with erythematous vesicular skin lesions on the trunk and extremities. Histopathologic examination of the blisters revealed an eosinophilic infiltrate. Further investigation revealed that her mother had three unexplained miscarriages and two normal uncomplicated pregnancies, resulting in the birth of two male infants. We performed a comprehensive genetic evaluation to rule out the interference of pseudogene IKBKGP, and the infant was finally diagnosed with IP. During the subsequent 2-year follow-up, we observed a significant improvement in her dermatologic symptoms, with no evidence of recurrence, and there were no other associated symptoms in the hair, nails, oral mucosa, eyes, or central nervous system.
Collapse
Affiliation(s)
- Lingfeng Xie
- The Second Clinical Medical College, Guangzhou University of Traditional Chinese Medicine, Guangzhou, China
- Department of Dermatology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine (Guangdong Provincial Hospital of Chinese Medicine), Guangzhou, China
| | - Yong Zhu
- The Second Clinical Medical College, Guangzhou University of Traditional Chinese Medicine, Guangzhou, China
| | - Liya He
- Department of Dermatology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine (Guangdong Provincial Hospital of Chinese Medicine), Guangzhou, China
| | - Bing Yu
- The Second Clinical Medical College, Guangzhou University of Traditional Chinese Medicine, Guangzhou, China
| | - Jiajue Wang
- The Second Clinical Medical College, Guangzhou University of Traditional Chinese Medicine, Guangzhou, China
| | - Ruiqiang Fan
- Department of Dermatology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine (Guangdong Provincial Hospital of Chinese Medicine), Guangzhou, China
| | - Xiumei Mo
- Department of Dermatology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine (Guangdong Provincial Hospital of Chinese Medicine), Guangzhou, China
- Guangdong Provincial Institute of Chinese Medicine Dermatology, Guangzhou, China
| | - Yu Zhang
- Department of Pathology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine (Guangdong Provincial Hospital of Chinese Medicine), Guangzhou, China
| | - Ting Xie
- The Second Clinical Medical College, Guangzhou University of Traditional Chinese Medicine, Guangzhou, China
- Department of Dermatology, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine (Guangdong Provincial Hospital of Chinese Medicine), Guangzhou, China
| |
Collapse
|
|
16
|
Washington C, Stolerman ES, Cooley‐Coleman JA, Jones JR, Chen‐Deutsch X. RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy. Clin Case Rep 2023; 11:e7165. [PMID: 37038535 PMCID: PMC10082350 DOI: 10.1002/ccr3.7165] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/11/2023] [Revised: 03/03/2023] [Accepted: 03/14/2023] [Indexed: 04/12/2023] Open
Abstract
We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyssey.
Collapse
|
|
17
|
Minić S, Cerovac N, Novaković I, Gazikalović S, Popadić S, Trpinac D. The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti. Diagnostics (Basel) 2023; 13:diagnostics13071300. [PMID: 37046518 PMCID: PMC10093331 DOI: 10.3390/diagnostics13071300] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/21/2023] [Revised: 03/19/2023] [Accepted: 03/28/2023] [Indexed: 03/31/2023] Open
Abstract
Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP. Among the most frequent CNS abnormalities found in IP using magnetic resonance imaging (MRI) are corpus callosum (CC) abnormalities. The aim of the study was to determine the presence of CC abnormalities, their relationship with the IKBKG mutations, and the possible presence of mutations of other genes. A group of seven IP patients was examined. Analyses of the IKBKG gene and the X-chromosome inactivation pattern were performed, as well as MRI and whole exome sequencing (WES) with the focus on the genes relevant for neurodegeneration. WES analysis showed IKBKG mutation in all examined patients. A patient who had a mutation of a gene other than IKBKG was excluded from further study. Four of the seven patients had clinically diagnosed CNS anomalies; two out of four had MRI-diagnosed CC anomalies. The simultaneous presence of IKBKG mutation and CC abnormalities and the absence of other mutations indicate that IKBKG may be the cause of CC abnormalities and should be included in the list of genes responsible for CC abnormalities.
Collapse
|
|
18
|
Vezzaro V, De María M, Lucas L, Acosta A. [Translated article] Is Incontinentia Pigmenti More Serious in Males? A Report of 2 Cases. ACTAS DERMO-SIFILIOGRAFICAS 2022; 113 Suppl 1:TS10-TS12. [PMID: 36228710 DOI: 10.1016/j.ad.2022.10.028] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2021] [Accepted: 07/16/2021] [Indexed: 11/07/2022] Open
Affiliation(s)
- V Vezzaro
- Departamento de Neonatología - Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay
| | - M De María
- Departamento de Neonatología - Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay.
| | - L Lucas
- Departamento de Neonatología - Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay
| | - A Acosta
- Cátedra de Dermatología, Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay
| |
Collapse
|
|
19
|
Vezzaro V, de María M, Lucas L, Acosta A. Is Incontinentia Pigmenti More Serious in Males? A Report of 2 Cases. ACTAS DERMO-SIFILIOGRAFICAS 2022; 113 Suppl 1:S10-S12. [PMID: 36543461 DOI: 10.1016/j.ad.2021.07.010] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2021] [Accepted: 07/16/2021] [Indexed: 12/30/2022] Open
Affiliation(s)
- V Vezzaro
- Departamento de Neonatología, Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay
| | - M de María
- Departamento de Neonatología, Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay.
| | - L Lucas
- Departamento de Neonatología, Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay
| | - A Acosta
- Cátedra de Dermatología, Centro Hospitalario Pereira Rossell, Universidad de la República, Montevideo, Uruguay
| |
Collapse
|
|
20
|
Danford ID, Scruggs BA, Capone A, Trese MT, Drenser KA, Thanos A, Nudleman E, Amphornphruet A, Tipsuriyaporn B, Hubbard GB, Ells A, Harper CA, Goldstein J, Calvo C, Wallace-Carrete C, Berry D, Chang E, Leishman L, Shapiro M, Blair M, Mikhail M, Shields CL, Schwendeman R, Yonekawa Y, Gupta MP, Orlin A, Prakhunhungsit S, Mukai S, Berrocal A, Hartnett ME, Campbell JP. The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti. Ophthalmol Retina 2022; 6:1113-1121. [PMID: 35691580 DOI: 10.1016/j.oret.2022.05.032] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2021] [Revised: 05/25/2022] [Accepted: 05/26/2022] [Indexed: 01/06/2023]
Abstract
PURPOSE To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease. DESIGN Multi-institutional consecutive retrospective case series. SUBJECTS New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018. METHODS Detailed ophthalmoscopic examination and FA were recommended for all new patients and performed on every patient who had parental consent. Ophthalmoscopic findings and FA images were graded for severity by 2 masked graders on a 3-point scale: 0 = no disease, 1 = vascular abnormalities without leakage, 2 = leakage or neovascularization, and 3 = retinal detachment. The presence of known CNS disease was documented. Additional cases were obtained from a pediatric retina listserv for examples of phenotypic variation. MAIN OUTCOME MEASURES The proportion of eyes noted to have disease on ophthalmoscopy compared with FA and the severity of retinal disease in those with and without known CNS disease. RESULTS Retinal pathology was detected in 18 of 35 patients (51%) by indirect ophthalmoscopy and 26 of 35 patients (74%) by FA (P = 0.048) in a predominantly pediatric population (median age, 9 months). Ten patients (29%) had known CNS disease at the time of the eye examination. A Wilcoxon rank-sum test indicated that the retinal severity scores for patients with CNS disease (median, 2) were significantly higher than the retinal severity scores for patients without CNS disease (median, 1), z = -2.12, P = 0.034. CONCLUSIONS Retinal disease is present in the majority of patients with IP, and ophthalmoscopic examination is less sensitive than FA for detection of disease. There may be a correlation between the severity of retinal and CNS disease.
Collapse
Affiliation(s)
- Ian D Danford
- Casey Eye Institute, Oregon Health and Science University, Portland, Oregon
| | - Brittni A Scruggs
- Casey Eye Institute, Oregon Health and Science University, Portland, Oregon; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota
| | | | | | - Kim A Drenser
- Associated Retinal Consultants, PC, Royal Oak, Michigan
| | - Aristomenis Thanos
- Associated Retinal Consultants, PC, Royal Oak, Michigan; Legacy Devers Eye Institute, Portland, Oregon
| | - Eric Nudleman
- Associated Retinal Consultants, PC, Royal Oak, Michigan; Shiley Eye Institute, University of California, San Diego, La Jolla, California
| | - Atchara Amphornphruet
- Queen Sirikit National Institute of Child Health, Department of Ophthalmology, Bangkok, Thailand
| | - Boontip Tipsuriyaporn
- Queen Sirikit National Institute of Child Health, Department of Ophthalmology, Bangkok, Thailand
| | | | - Anna Ells
- Calgary Retina Consultants, Calgary, Alberta, Canada
| | | | | | | | | | - Duncan Berry
- Charlotte Eye, Ear, Nose & Throat Associates, P.A., Charlotte, North Carolina
| | | | | | | | | | - Mikel Mikhail
- Lakeridge Health, Queen's University, Ontario, Canada
| | - Carol L Shields
- Ocular Oncology Service, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University Philadelphia, Pennsylvania
| | - Rachel Schwendeman
- Ocular Oncology Service, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University Philadelphia, Pennsylvania
| | - Yoshihiro Yonekawa
- Mid Atlantic Retina, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania
| | - Mrinali P Gupta
- Retina Associates of Orange County, Laguna Hills, California; Weill Cornell Medical College, New York, New York
| | - Anton Orlin
- Weill Cornell Medical College, New York, New York
| | | | - Shizuo Mukai
- Massachusetts Eye and Ear Infirmary, Harvard University, Boston, Massachusetts
| | - Audina Berrocal
- Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami, Miami, Florida
| | | | - J Peter Campbell
- Casey Eye Institute, Oregon Health and Science University, Portland, Oregon.
| |
Collapse
|
|
21
|
Abstract
PURPOSE OF REVIEW Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss. RECENT FINDINGS There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring. SUMMARY Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.
Collapse
|
|
22
|
Li WC, Li ML, Ding JW, Wang L, Wang SR, Wang YY, Xiao LF, Sun T. Incontinentia pigmenti with intracranial arachnoid cyst: A case report. World J Clin Cases 2022; 10:8352-8359. [PMID: 36159532 PMCID: PMC9403704 DOI: 10.12998/wjcc.v10.i23.8352] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/13/2022] [Revised: 06/25/2022] [Accepted: 07/06/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that can be fatal in male infants. It is a disease that affects many systems of the human body. In addition to characteristic skin changes, patients may also have pathological features of the eyes, teeth, and central nervous system. Therefore, the lesions in these systems may be the first symptoms for which patients seek treatment. To date, no cases of IP complicated by intracranial arachnoid cyst (IAC) have been reported. This paper aims to report a case of IP with IAC in order to share the diagnosis and treatment experience of this rare case with other clinicians.
CASE SUMMARY An 11-year-old female patient suffered intermittent limb convulsions for five months and was sent to hospital. In the initial stage, the patient was considered to have primary epilepsy. Further investigation of the patient's medical history, physical examination and imaging examination led to the diagnosis of IP combined with intracranial space-occupying lesions, and secondary epilepsy. The patient was treated with craniotomy, and postoperative pathology revealed an IAC. The patient recovered well after craniotomy and had no obvious surgery-related complications. During the follow-up period, the patient did not have recurrent epilepsy symptoms.
CONCLUSION IP is a multi-system disease that presents with typical skin lesions at birth, but the long-term prognosis of this disease depends on the involvement of systems other than the skin, especially nervous system and ocular lesions.
Collapse
Affiliation(s)
- Wen-Chao Li
- Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan 750000, Ningxia Hui Autonomous Region, China
- Department of Neurosurgery, The First Affiliated Hospital of Xinxiang Medical University, Xinxiang 453000, Henan Province, China
| | - Man-Li Li
- Department of Physiology, Sanquan College of Xinxiang Medical University, Xinxiang 453000, Henan Province, China
| | - Jiang-Wei Ding
- Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan 750000, Ningxia Hui Autonomous Region, China
| | - Lei Wang
- Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan 750000, Ningxia Hui Autonomous Region, China
| | - Shu-Ren Wang
- Department of Neurosurgery, The First Affiliated Hospital of Xinxiang Medical University, Xinxiang 453000, Henan Province, China
| | - Yang-Yang Wang
- Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan 750000, Ningxia Hui Autonomous Region, China
| | - Li-Fei Xiao
- Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan 750000, Ningxia Hui Autonomous Region, China
| | - Tao Sun
- Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan 750000, Ningxia Hui Autonomous Region, China
| |
Collapse
|
|
23
|
Minić S, Trpinac D, Novaković I, Cerovac N, Dobrosavljević Vukojević D, Rosain J. Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation. Diagnostics (Basel) 2022; 12:1711. [PMID: 35885615 PMCID: PMC9318020 DOI: 10.3390/diagnostics12071711] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/11/2022] [Revised: 07/10/2022] [Accepted: 07/11/2022] [Indexed: 11/16/2022] Open
Abstract
Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later revealed to be caused by Incontinentia pigmenti (IP). Furthermore, 20 years later, it was discovered that the proband was also a carrier of a heterozygous GBA gene mutation. The methods used in diagnostics were as follows: IKBKG gene analysis, the X-chromosome inactivation assay, analyses of the genes relevant for neurodegeneration, WES analysis, analysis of biochemical parameters typical for Gaucher disease (GD), and autoantibodies including IFN-α2a and IFN-ω. To avoid overlooking IP and other possible rare disease diagnoses, carefully searching for dermatological signs in these conditions is recommended. It is important that the diagnostic criteria are based on quality and extensive data from multiple studies of each rare disease. Establishing precise diagnostic criteria for as many rare diseases as possible and establishing a publicly accessible database of rare diseases with a search possibility according to phenotypic abnormalities and genetic mutations would greatly facilitate and speed up the establishment of an accurate diagnosis.
Collapse
Affiliation(s)
- Snežana Minić
- A Clinics of Dermatovenerology, University Clinical Center of Serbia, Deligradska 34, 11000 Belgrade, Serbia;
- Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia;
| | - Dušan Trpinac
- Institute of Histology and Embryology, Faculty of Medicine, University of Belgrade, Višegradska 26, 11000 Belgrade, Serbia;
| | - Ivana Novaković
- Institute of Human Genetics, Faculty of Medicine, University of Belgrade, Višegradska 26, 11000 Belgrade, Serbia;
| | - Nataša Cerovac
- Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia;
- Clinic for Neurology and Psychiatry for Children and Youth, University Clinical Center of Serbia, Dr. Subotica 6a, 11000 Belgrade, Serbia
| | - Danijela Dobrosavljević Vukojević
- A Clinics of Dermatovenerology, University Clinical Center of Serbia, Deligradska 34, 11000 Belgrade, Serbia;
- Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia;
| | - Jérémie Rosain
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France;
- Imagine Institute, University of Paris, 75015 Paris, France
| |
Collapse
|
|
24
|
FR - Actualización en el diagnóstico y manejo de la incontinentia pigmenti. ACTAS DERMO-SIFILIOGRAFICAS 2022; 113:624-626. [DOI: 10.1016/j.ad.2020.11.036] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/27/2020] [Accepted: 11/23/2020] [Indexed: 11/21/2022] Open
|
|
25
|
Vega-Castillo J, Martín-Santiago A. [Translated article] RF – Diagnosis and Management of Incontinentia Pigmenti: An Update. ACTAS DERMO-SIFILIOGRAFICAS 2022. [DOI: 10.1016/j.ad.2020.11.039] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022] Open
|
|
26
|
Dwiyana RF, Banjarnahor ID, Diana IA, Gondokaryono SP, Effendi RMRA, Feriza V. Retinal Neovascularization in Two Patients with Incontinentia Pigmenti. Clin Cosmet Investig Dermatol 2022; 15:803-808. [PMID: 35521560 PMCID: PMC9063803 DOI: 10.2147/ccid.s363179] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/23/2022] [Accepted: 04/20/2022] [Indexed: 11/23/2022]
Abstract
Incontinentia pigmenti (IP) is a rare genodermatosis, inherited in an X-linked dominant pattern, making it generally found among women. Among several characteristics of IP are four phases of skin manifestation that tend to follow Blaschko's lines, in addition to abnormalities of the eye, central nervous system (CNS), and teeth. Ocular involvement in IP patients can occur since birth, which can be classified into retinal or non-retinal disorders. Retinal disorders can result in detachment, which is a major ocular threat for IP patients. This article reports two IP cases with overlapped phases of skin disorders in baby girls with ocular manifestations since early life. Clinical signs and additional examination of the skin and eyes are utilized to make the diagnosis. All the features of the histopathological examination supported the diagnosis of IP, and ocular exams revealed abnormalities in the form of retinal neovascularization (RN). Although RN may resolve spontaneously, patients should be monitored for the development of other eye disorders such as visual impairment.
Collapse
Affiliation(s)
- Reiva Farah Dwiyana
- Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin Hospital, Bandung, Indonesia
| | - Ivan Daniel Banjarnahor
- Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin Hospital, Bandung, Indonesia
| | - Inne Arline Diana
- Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin Hospital, Bandung, Indonesia
| | - Srie Prihianti Gondokaryono
- Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin Hospital, Bandung, Indonesia
| | | | - Vina Feriza
- Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin Hospital, Bandung, Indonesia
| |
Collapse
|
|
27
|
Nirmalasari DA, Tabri F, Waspodo N, Rimayani S, Adriani A. Incontinentia pigmenti / Bloch–Sulzberger syndrome: a case report. ACTA DERMATOVENEROLOGICA ALPINA PANNONICA ET ADRIATICA 2022. [DOI: 10.15570/actaapa.2022.5] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
|
|
28
|
Yang MC, Lin YC, Huang CH, Ko TM, Tsai MC, Kuo PL, Lee JYY, McGrath JA, Hsu CK. Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm. Clin Exp Dermatol 2022; 47:1366-1368. [PMID: 35267209 DOI: 10.1111/ced.15170] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/07/2022] [Accepted: 03/07/2022] [Indexed: 11/29/2022]
Affiliation(s)
- Min-Chia Yang
- Department of Dermatology, National Cheng Kung University, Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.,Education Center, National Cheng Kung University, Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
| | - Yu-Chen Lin
- Department of Dermatology, National Cheng Kung University, Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.,International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan
| | - Chien-Hao Huang
- Genephile Bioscience Laboratory, Ko's Obstetrics & Gynecology Clinic, Taipei, Taiwan
| | - Tsang-Ming Ko
- Genephile Bioscience Laboratory, Ko's Obstetrics & Gynecology Clinic, Taipei, Taiwan
| | - Meng-Che Tsai
- Department of Pediatrics, National Cheng Kung University, Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
| | - Pao-Lin Kuo
- Department of Obstetrics and Gynecology, National Cheng Kung University, Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.,Institute of Basic Medical Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan
| | - Julia Yu-Yun Lee
- Department of Dermatology, National Cheng Kung University, Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
| | - John A McGrath
- St John's Institute of Dermatology, King's College London, Guy's Campus, London, UK
| | - Chao-Kai Hsu
- Department of Dermatology, National Cheng Kung University, Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.,International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.,Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan
| |
Collapse
|
|
29
|
Gelardi L. Incontinentia Pigmenti: X-Linked Skin Disorder: A Case Report. Neonatal Netw 2022; 41:89-93. [PMID: 35260425 DOI: 10.1891/11-t-725] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/07/2021] [Indexed: 11/25/2022]
Abstract
Incontinentia pigmenti (IP) is a rare X-linked neuroectodermal dysplasia affecting the skin, hair, teeth, nails, microvasculature, and central nervous system. Mutations in the IKBKG gene cause this disorder. Incontinentia pigmenti is found in 65-75 percent sporadic mutations and 25-35 percent familial cases. Most patients are female, as the disease is generally lethal in males. The condition often is identified secondary to skin presentations followed by the central nervous system (CNS) manifestations in the eye and brain within the first year of life. In addition to the skin changes, there may be defects in the hair, nails, and teeth. The uniqueness of the disorder and shared findings similar to other skin disorders complicate the diagnosis. Clinical findings point to an array of possibilities. Lack of information on family history complicates the time to diagnosis. With the confirmation of IP, a thorough evaluation with appropriate consultations improves outcomes where possible.
Collapse
|
|
30
|
Hübner S, Schwieger-Briel A, Technau-Hafsi K, Danescu S, Baican A, Theiler M, Weibel L, Has C. Phänotypisches und genetisches Spektrum von Incontinentia pigmenti – eine große Fallserie. J Dtsch Dermatol Ges 2022; 20:35-44. [PMID: 35040575 DOI: 10.1111/ddg.14638_g] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2021] [Accepted: 08/18/2021] [Indexed: 11/30/2022]
Abstract
HINTERGRUND Incontinentia pigmenti ist eine seltene X-chromosomal dominant vererbte Systemerkrankung, die vor allem die Haut, aber auch andere neuroektodermale Gewebe wie Zähne, Haare, Augen und das zentrale Nervensystem betrifft. PATIENTEN UND METHODIK Diese multizentrische Fallserienstudie wurde an drei europäischen Hautkliniken durchgeführt und umfasste 30 Patienten mit Incontinentia pigmenti. Zwanzig Patienten wurden klinisch und genetisch untersucht, weitere zehn nur genetisch. ERGEBNISSE Die Studie umfasste 28 Frauen und zwei Männer mit einem medianen Alter von drei Jahren. Kutane Manifestationen zeigten sich bei allen 20 Patienten mit klinischen Daten. Stadium I wurde in 90 % dieser Patienten beobachtet. Stadium IV wurde bereits im Alter von einem Jahr beobachtet. Zahn- (81 %), Haar- (78 %) und neurologische Anomalien (53 %) waren häufiger als in bisherigen Berichten. Vierzehn Hautbiopsien zeigten typische Merkmale des entsprechenden Stadiums. Genetische Tests wurden bei 24 Patienten durchgeführt, von denen 14 die häufige Exon 4-10-Deletion und sieben andere pathogene Varianten aufwiesen, darunter drei unveröffentlichte Mutationen. In drei weiteren Fällen wurden keine genetischen Veränderungen gefunden. SCHLUSSFOLGERUNGEN In dieser Studie reichte der Phänotyp von lediglich subtil ausgeprägter Hautbeteiligung bis hin zu schweren Multisystemerkrankungen. Die extrakutane Beteiligung sollte zum Zeitpunkt der Diagnose und in regelmäßigen Abständen evaluiert werden, da sich einige Manifestationen erst mit der Zeit entwickeln. SUMMARY Background and objectives Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system. Patients and methods This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. Results The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found. Conclusions In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.
Collapse
Affiliation(s)
- Stefanie Hübner
- Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Deutschland
| | | | | | - Sorina Danescu
- Klinik für Dermatologie, Iuliu Haţieganu Universität für Medizin und Pharmazie, Cluj-Napoca, Rumänien
| | - Adrian Baican
- Klinik für Dermatologie, Iuliu Haţieganu Universität für Medizin und Pharmazie, Cluj-Napoca, Rumänien
| | - Martin Theiler
- Pädiatrische Dermatologie, Universitäts-Kinderspital Zürich, Schweiz
| | - Lisa Weibel
- Pädiatrische Dermatologie, Universitäts-Kinderspital Zürich, Schweiz
| | - Cristina Has
- Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Deutschland.,Europäisches Referenznetzwerk (ERN) für seltene und nicht-diagnostizierte Hauterkrankungen
| |
Collapse
|
|
31
|
Bagherani N, Hasić-Mujanović M, Smoller B, Reyes-Barron C, Bergler-Czop B, Miziołek B, Kasumagic-Halilovic E, Sinclair R, Poa JE, Ankad BS, Bagherani N, Sahebnasagh R. Disorders of Hair. ATLAS OF DERMATOLOGY, DERMATOPATHOLOGY AND VENEREOLOGY 2022:669-742. [DOI: 10.1007/978-3-319-53808-2_53] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2025]
|
|
32
|
Hübner S, Schwieger-Briel A, Technau-Hafsi K, Danescu S, Baican A, Theiler M, Weibel L, Has C. Phenotypic and genetic spectrum of incontinentia pigmenti - a large case series. J Dtsch Dermatol Ges 2021; 20:35-43. [PMID: 34904373 DOI: 10.1111/ddg.14638] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2021] [Accepted: 08/18/2021] [Indexed: 11/30/2022]
Abstract
BACKGROUND AND OBJECTIVES Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system. PATIENTS AND METHODS This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. RESULTS The study included 28 females and two males with a median age of three years. Cutaneous manifestations were present in all 20 patients with clinical data. Stage I was observed in 90 % of those patients. Stage IV was observed as early as one year of age. Dental (81 %), hair (78 %) and neurological anomalies (53 %) were more frequent than previously reported. Fourteen skin biopsies showed typical features of the corresponding stage. Genetic testing of 24 patients revealed the common exon 4-10 deletion in 14 cases and seven other pathogenic variants, including three unpublished mutations. In another three cases, no genetic alterations were found. CONCLUSIONS In this study, the phenotype ranged from only subtle cutaneous involvement to severe multisystemic disorders. Extracutaneous involvement should be evaluated at the time of diagnosis and in regular intervals, as some manifestations may develop over time.
Collapse
Affiliation(s)
- Stefanie Hübner
- Department of Dermatology, Medical Center-University of Freiburg, Germany
| | - Agnes Schwieger-Briel
- Pediatric Skin Center, Dermatology Department, University Children's Hospital, Zurich, Switzerland
| | | | - Sorina Danescu
- Department of Dermatology, Iuliu Hat˛ieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Adrian Baican
- Department of Dermatology, Iuliu Hat˛ieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania
| | - Martin Theiler
- Pediatric Skin Center, Dermatology Department, University Children's Hospital, Zurich, Switzerland
| | - Lisa Weibel
- Pediatric Skin Center, Dermatology Department, University Children's Hospital, Zurich, Switzerland
| | - Cristina Has
- Department of Dermatology, Medical Center-University of Freiburg, Germany.,European Reference Network (ERN) on Rare and Undiagnosed Skin Disorders
| |
Collapse
|
|
33
|
Bodemer C, Diociaiuti A, Hadj-Rabia S, Robert MP, Desguerre I, Manière MC, de la Dure-Molla M, De Liso P, Federici M, Galeotti A, Fusco F, Fraitag S, Demily C, Taieb C, Valeria Ursini M, El Hachem M, Steffann J. Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti. J Eur Acad Dermatol Venereol 2021; 34:1415-1424. [PMID: 32678511 DOI: 10.1111/jdv.16403] [Citation(s) in RCA: 21] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/24/2019] [Revised: 02/28/2020] [Accepted: 03/10/2020] [Indexed: 12/14/2022]
Abstract
BACKGROUND Incontinentia pigmenti (IP) is a rare multisystemic X-linked dominant genetic disorder characterized by highly diagnostic skin lesions. The disease can be misdiagnosed in infants, and complications affecting the eyes and/or the brain can be severe. Our objective was to highlight the urgency of an appropriate diagnosis and management strategy, as soon as the first symptoms appear, and the need for a well-codified monitoring strategy for each child. METHODS An in-depth literature review using a large number of databases was conducted. The selection criteria for articles were literature review articles on the disease, case series and retrospective studies based on the disease, clinical studies (randomized or not) on treatment, articles discussing patient care and management (treatment, diagnosis, care pathways), and recommendations. The research period was from 2000 until 2018. A group of multidisciplinary experts in IP management was involved, issued from different healthcare providers of the European Network for Rare Skin Diseases (ERN-Skin). The final recommendations have been submitted to two patient representative associations and to a general practitioner and a neonatal specialist prior to their finalization. RESULTS AND CONCLUSION The diagnosis of IP must be promptly performed to detect potential extracutaneous manifestations, thus allowing the timely implementation of specific therapeutic and monitoring strategies. Eye involvement can be a therapeutic urgency, and central nervous system (CNS) involvement requires a very rigorous long-term follow-up. Assessments and patient support should take into account the possible co-occurrence of various symptoms (including motor, visual and cognitive symptoms).
Collapse
Affiliation(s)
- C Bodemer
- Department of Dermatology, Reference Centre for Genodermatoses (MAGEC) Necker Enfants Malades Hospital, Imagine Institute, FIMARAD, ERN-Skin, Paris Centre University, Paris, France
| | - A Diociaiuti
- Department of Dermatology, ERN-Skin, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - S Hadj-Rabia
- Department of Dermatology, Reference Centre for Genodermatoses (MAGEC) Necker Enfants Malades Hospital, Imagine Institute, FIMARAD, ERN-Skin, Paris Centre University, Paris, France
| | - M P Robert
- Department of Ophthalmology, Imagine Institute, Necker Enfants Malades Hospital, Paris Centre University France, Paris, France
| | - I Desguerre
- Department of Pediatric Neurology, Imagine Institute, Necker Enfants Malades Hospital, Paris Centre University France, Paris, France
| | - M-C Manière
- Department of Pediatric Odontology, Expert Centre (MAFACE), Strasbourg Hospital, Université de Chirurgie Dentaire, Strasbourg, France
| | - M de la Dure-Molla
- Expert Centre for Rare Face and Oral Cavity Malformations, Rothschild Cavity, Paris, France
| | - P De Liso
- Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - M Federici
- Ophthalmology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - A Galeotti
- Dentistry Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - F Fusco
- Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, Italy
| | - S Fraitag
- Department of Pathology, Necker Enfants Malades Hospital, Paris, France
| | - C Demily
- Reference Centre Génopsy, CRMR Maladies Rares à Expression Psychiatrique, Centre Hospitalier Le Vinatier, Bron, France
| | - C Taieb
- National Network for Rare Diseases FIMARA, Necker Enfants Malades Hospital, Paris, France
| | - M Valeria Ursini
- Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Naples, Italy
| | - M El Hachem
- Department of Dermatology, ERN-Skin, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - J Steffann
- Department of Genetics, Imagine Institute, Necker Enfants Malades Hospital, Paris Centre Université, Paris, France
| |
Collapse
|
|
34
|
Kim HY, Song HB, Kim KH, Kim JH, Chae JH, Kim MJ, Seong MW, Ko JM. Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene. Exp Dermatol 2021; 30:676-683. [PMID: 33655605 DOI: 10.1111/exd.14313] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2021] [Revised: 02/13/2021] [Accepted: 02/25/2021] [Indexed: 11/29/2022]
Abstract
Incontinentia pigmenti (IP) is a rare X-linked skin disease caused by mutations in the IKBKG gene, which is required for activation of the nuclear factor-kappa B signalling pathway. Multiple systems can be affected with highly variable phenotypic expressivity. We aimed to clarify the clinical characteristics observed in molecularly confirmed Korean IP patients. The medical records of 25 females confirmed as IP by molecular genetic analysis were retrospectively reviewed. The phenotypic score of extracutaneous manifestations was calculated to assess the disease severity. The IKBKG gene partial deletion or intragenic mutations were investigated using long-range PCR, multiplex ligation-dependent probe amplification and direct sequencing methods. Among the 25 individuals, 18 (72%) were sporadic cases. All patients showed typical skin manifestations at birth or during the neonatal period. Extracutaneous findings were noted in 17 (68%) patients; ocular manifestations (28%), neurological abnormalities (28%), hair abnormalities (20%), dental anomalies (12%), nail dystrophy (8%). The common exon 4-10 IKBKG deletion was observed in 20 (80%) patients. In addition, five intragenic sequence variants were identified, including three novel variants. The phenotype scores were highly variable, ranging from abnormal skin pigmentation only to one or more extracutaneous features, although no significant difference was observed for each clinical characteristic between the group with sequence variants and that with common large deletion. Our cohort with IP showed heterogeneity of extracutaneous manifestations and high incidence of sporadic cases. Long-term monitoring with multidisciplinary management is essential for evaluating the clinical status, providing adequate genetic counselling and understanding the genotype-phenotype correlation in IP.
Collapse
Affiliation(s)
- Hwa Young Kim
- Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Hyun Beom Song
- Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Kyu Han Kim
- Department of Dermatology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Jeong Hun Kim
- Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Jong-Hee Chae
- Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.,Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Man Jin Kim
- Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.,Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Moon-Woo Seong
- Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| | - Jung Min Ko
- Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.,Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
| |
Collapse
|
|
35
|
Mitri F, Bersano A, Hervé D, Kraemer M. Cutaneous manifestations in Moyamoya angiopathy: A review. Eur J Neurol 2021; 28:1784-1793. [PMID: 33486780 DOI: 10.1111/ene.14754] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/02/2020] [Revised: 01/15/2021] [Accepted: 01/16/2021] [Indexed: 11/29/2022]
Abstract
BACKGROUND AND PURPOSE Moyamoya angiopathy (MA) is a progressive cerebrovascular disease with a poorly understood pathophysiology. It is mainly characterized by progressive bilateral stenosis of the terminal intracranial part of the supraclinoid internal carotid arteries and the proximal parts of the middle and anterior cerebral arteries. This results in early-onset ischemic or hemorrhagic strokes. The disease may be idiopathic (known as Moyamoya disease) or associated with other heritable or acquired conditions, including type 1 neurofibromatosis or other RASopathies, sickle cell disease, Down syndrome, or autoimmune disorders (known as Moyamoya syndrome). Apart from the brain, other organ manifestations including cutaneous ones have also been described in MA patients. MATERIALS AND METHODS A literature research on PubMed was performed for articles mentioning the cutaneous association in MA and published between 1994 and October 2020. CONCLUSION The present review summarizes the cutaneous associations as well as the coincidental dermatological findings seen in MA patients. Those include changes in the epidermis, dermis, or skin appendages for example café-au-lait spots, hypomelanosis of Ito, livedo racemosa, hemangiomas, premature graying of hair, chilblains etc.
Collapse
Affiliation(s)
- Fouad Mitri
- Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany
| | - Anna Bersano
- Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy
| | - Dominique Hervé
- CERVCO Centre de Référence des maladies Vasculaires rares du Cerveau et de l'Oeil, Hôpital Lariboisière, Paris, France
| | - Markus Kraemer
- Department of Neurology, Alfried Krupp von Bohlen und Halbach Hospital, Essen, Germany.,Department of Neurology, Heinrich Heine University Hospital, Düsseldorf, Germany
| |
Collapse
|
|
36
|
Baig SM, Pandya Shah S. The Anesthetic Challenges of Caring for a Pediatric Patient With Incontinentia Pigmenti: A Case Report. A A Pract 2021; 15:e01384. [PMID: 33986197 PMCID: PMC7846286 DOI: 10.1213/xaa.0000000000001384] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 12/04/2020] [Indexed: 11/13/2022]
Abstract
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder. We present a case of an infant with IP who was brought to the operating room for panretinal diode photocoagulation under general anesthesia. The anesthesia team was unable to obtain intravenous access even with instruments such as a vein finder and ultrasound. Anesthesia for IP patients also poses challenges such as prevention of the oculocardiac reflex, obesity and airway management, and preemptive measures for intravenous access due to skin manifestations. Patients with IP may present with many challenges for the anesthesiologist during all phases of anesthetic management.
Collapse
Affiliation(s)
- Shabaaz M. Baig
- From the Department of Anesthesiology, Rutgers New Jersey Medical School, Newark, New Jersey
| | - Shridevi Pandya Shah
- From the Department of Anesthesiology, Rutgers New Jersey Medical School, Newark, New Jersey
| |
Collapse
|
|
37
|
Alkhowailed MS, Otayf M, Albasseet A, Almousa A, Alajlan Z, Altalhab S. Clinical Approach to Linear Hyperpigmentation: A Review Article. Clin Cosmet Investig Dermatol 2021; 14:23-35. [PMID: 33447068 PMCID: PMC7802900 DOI: 10.2147/ccid.s280819] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/07/2020] [Accepted: 11/24/2020] [Indexed: 12/18/2022]
Abstract
Linear hyperpigmentation is an unusual anatomical configuration in clinical dermatology. Owing to its rarity, consensus on the most effective method of classification is lacking. While linear hyperpigmentation generally follows Blaschko's lines, this is not universal. Clinical findings such as adherence to Blaschko's lines, associated morphological findings (including other cutaneous lesions), and systemic manifestations can be used to further characterize and diagnose variants of the disorder. Early detection of any underlying disease is vital, especially in cases with effective management, because the disorder may make it difficult to manage hyperpigmentation. Herein, we introduce a logical clinical diagnostic approach that represents a useful tool for dermatologists to efficiently evaluate patients presenting with linear hyperpigmentation. A simplified systematic and evidence-based approach is useful for this clinical condition owing to the heterogeneous causes and lack of specific diagnostic tools.
Collapse
Affiliation(s)
- Mohammad S Alkhowailed
- Department of Dermatology, College of Medicine, Qassim University, Buraydah, Qassim, Saudi Arabia
| | - Mojahed Otayf
- College of Medicine, King Saud University, Riyadh, Saudi Arabia
| | | | | | - Ziyad Alajlan
- College of Medicine, King Saud University, Riyadh, Saudi Arabia
| | - Saad Altalhab
- Department of Dermatology, College of Medicine, Al-Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia
| |
Collapse
|
|
38
|
Kawai M, Kato T, Tsutsumi M, Shinkai Y, Inagaki H, Kurahashi H. Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti. Mol Genet Genomic Med 2020; 8:e1531. [PMID: 33085210 PMCID: PMC7767561 DOI: 10.1002/mgg3.1531] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2020] [Revised: 09/04/2020] [Accepted: 09/14/2020] [Indexed: 02/06/2023] Open
Abstract
Background Incontinentia pigmenti (IP) is a rare X‐linked disorder affecting the skin and other ectodermal tissues that is caused by mutation of the IKBKG/NEMO gene. Previous studies have reported that the overall mutation detection rate in IP is ~75%. We hypothesized that a low‐level mosaicism existed in the remaining cases. Methods Genomic variations in the IKBKG gene were examined in 30 IP probands and their family members. Standard mutational analyses were performed to detect common deletions, nucleotide alterations, and copy number variations. To assess skewing of the X chromosome inactivation (XCI) pattern, a HUMARA assay was performed. We compared the results of this analysis with phenotype severity. Results Pathogenic variants were identified in 20 probands (66.7%), the rate of detection was suboptimal. The remaining 10 probands tended to manifest a mild phenotype with no skewed X chromosome inactivation that is generally observed in IP patients. Quantitative nested PCR and digital droplet PCR were performed for the 10 patients and mosaicism of the common IKBKG deletion were identified in five patients. Conclusion Overall, we detected 25 IKBKG mutations (83.3%). Determination of the XCI value in advance of mutational analyses for IP could improve the mutation detection rate. Our improved detection rate for these mutations, particularly those with a low‐level mosaicism, may present opportunities for appropriate genetic counseling.
Collapse
Affiliation(s)
- Miki Kawai
- Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.,Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Japan
| | - Takema Kato
- Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan
| | - Makiko Tsutsumi
- Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan
| | - Yasuko Shinkai
- Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan
| | - Hidehito Inagaki
- Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan
| | - Hiroki Kurahashi
- Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.,Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Japan
| |
Collapse
|
|
39
|
Utz VM, Brightman DS, Sandoval MA, Hufnagel RB, Saal HM. Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS 2020; 184:644-655. [PMID: 32888375 PMCID: PMC8808370 DOI: 10.1002/ajmg.c.31839] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/01/2020] [Revised: 08/06/2020] [Accepted: 08/09/2020] [Indexed: 12/16/2022]
Abstract
Mosaic genetic mutations may be somatic, germline, or "gonosomal" and have the potential to cause genetic syndromes, disorders, or malformations. Mutations can occur at any point in embryonic development and the timing determines the extent of distribution of the mutation throughout the body and different tissue types. The eye and visual pathway offer a unique opportunity to study somatic and gonosomal mosaic mutations as the eye consists of tissues derived from all three germ layers allowing disease pathology to be assessed with noninvasive imaging. In this review, we describe systemic and ocular manifestations in a child with mosaic Coffin-Siris syndrome. The patient presented with a significant medical history of accommodative esotropia and hyperopia, macrocephaly, polydactyly, global developmental delay, hypotonia, ureteropelvic junction (UPJ) obstruction, and brain MRI abnormalities. The ophthalmic findings in this patient were nonspecific, however, they are consistent with ocular manifestations reported in other patients with Coffin-Siris syndrome. We also review ophthalmic findings of select mosaic chromosomal and single-gene disorders. Ophthalmic assessment alongside clinical genetic testing may play an important role in diagnosis of genetic syndromes as well as understanding disease pathology, particularly when mosaicism plays a role.
Collapse
Affiliation(s)
- Virginia Miraldi Utz
- Abrahamson Pediatric Eye Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
- Department of Ophthalmology, University of Cincinnati College of Medicine, Cincinnati, Ohio
| | - Diana S. Brightman
- Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
| | - Monica A. Sandoval
- Abrahamson Pediatric Eye Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
| | - Robert B. Hufnagel
- Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
| | - Howard M. Saal
- Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
- College of Medicine, University of Cincinnati, Cincinnati, Ohio
| |
Collapse
|
|
40
|
Park SH, Nam KH, Ho YH. Case of a Male Newborn with Incontinentia Pigmenti Initially Misdiagnosed as a Recurrent Skin Infection. NEONATAL MEDICINE 2020. [DOI: 10.5385/nm.2020.27.3.141] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/01/2022] Open
|
|
41
|
Glade DC, Sitabkhan AZ, Osswald SS. Spreading Vesicles in a Neonate. J Pediatr 2020; 219:274-275. [PMID: 31955880 DOI: 10.1016/j.jpeds.2019.12.020] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/15/2019] [Revised: 12/11/2019] [Accepted: 12/11/2019] [Indexed: 11/30/2022]
Affiliation(s)
| | - Amreen Z Sitabkhan
- Division of Dermatology, University of Texas Health San Antonio, San Antonio, Texas
| | - Sandra S Osswald
- Division of Dermatology, University of Texas Health San Antonio, San Antonio, Texas
| |
Collapse
|
|
42
|
Lalor LE, Chiu YE. Rare Vesiculopustular Eruptions of the Neonatal Period. Clin Perinatol 2020; 47:53-75. [PMID: 32000929 DOI: 10.1016/j.clp.2019.09.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/28/2022]
Abstract
Numerous disorders present with vesiculopustular eruptions in the neonatal period, ranging from benign to life-threatening. Accurate and prompt diagnosis is imperative to avoid unnecessary testing and treatment for benign eruptions, while allowing for adequate treatment of potentially fatal disorders. In this review, we highlight several rare blistering diseases of the newborn. A diagnostic approach is outlined to provide clinicians with a framework for approaching a neonate with vesicles, pustules, or ulcers.
Collapse
Affiliation(s)
- Leah E Lalor
- Department of Dermatology (Pediatric Dermatology), Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA; Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
| | - Yvonne E Chiu
- Department of Dermatology (Pediatric Dermatology), Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA; Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
| |
Collapse
|
|
43
|
Abstract
Gray diseases are a group of skin disorders characterized mainly by gray discoloration with or without involving the mucous membranes and nails. These diseases may be hereditary or acquired. Some of the better-known hereditary entities are dermal melanocytosis, incontinentia pigmenti, hypomelanosis of Ito, hemochromatosis, ochronosis, and silvery hair syndrome. Acquired diseases with gray coloring include late-stage organ failure, lichen planus pigmentosus, erythema dyschromicum perstans, and drug reactions. The discoloration is due to either increased epidermal and or dermal melanin or dermal deposition of a chromogen or a combination of both. Investigations are directed to determining the underlying medical condition and a skin biopsy is usually unnecessary. Likewise, treatment is directed mainly toward the underlying medical disease. Although bleaching (lightening) agents may diminish the discoloration, better results may be obtained from using a Q-switched laser and intense pulsed light, either alone or in combination with topical agents.
Collapse
Affiliation(s)
- M Badawy Abdel-Naser
- Department of Dermatology, Andrology and STIs, Ain Shams University Hospital, Cairo, Egypt.
| |
Collapse
|
|
44
|
Incontinentia pigmenti. A descriptive study of experience in two different hospitals. An Pediatr (Barc) 2020. [DOI: 10.1016/j.anpede.2019.04.012] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
|
|
45
|
Pal S, Jain A, Chopra A, Singh M. Case 2: A Newborn with a Changing Rash. Neoreviews 2019; 20:e740-e743. [PMID: 31792161 DOI: 10.1542/neo.20-12-e740] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2022]
Affiliation(s)
| | | | | | - Meeta Singh
- Pathology, Maulana Azad Medical College & Associated LokNayak Hospital, New Delhi, India
| |
Collapse
|
|
46
|
Thorsness S, Eyler J, Mudaliar K, Speiser J, Kim W. Asymptomatic Rash in a Male Infant with Incontinentia Pigmenti. J Pediatr 2019; 215:278-278.e1. [PMID: 31383470 DOI: 10.1016/j.jpeds.2019.07.005] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/02/2019] [Revised: 06/28/2019] [Accepted: 07/02/2019] [Indexed: 11/24/2022]
Affiliation(s)
- Stefanie Thorsness
- Stritch School of Medicine, Loyola University Chicago, Maywood, Illinois
| | - Jennifer Eyler
- Division of Dermatology, Loyola University Medical Center, Maywood, Illinois
| | - Kumaran Mudaliar
- Department of Pathology, Loyola University Medical Center, Maywood, Illinois
| | - Jodi Speiser
- Department of Pathology, Loyola University Medical Center, Maywood, Illinois
| | - Wendy Kim
- Division of Dermatology, Loyola University Medical Center, Maywood, Illinois
| |
Collapse
|
|
47
|
Taieb C, Hadj-Rabia S, Monnet J, Bennani M, Bodemer C. Incontinentia pigmenti burden scale: designing a family burden questionnaire. Orphanet J Rare Dis 2019; 14:271. [PMID: 31771608 PMCID: PMC6880510 DOI: 10.1186/s13023-019-1234-y] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/29/2019] [Accepted: 10/22/2019] [Indexed: 11/10/2022] Open
Abstract
BACKGROUND Incontentia pigmenti (IP) is a rare multisystem disorder of ectodermal origin comprising skin, dental, ocular and central nervous system features. Symptomatic treatments are adapted to each family according to the patient's disability. Due to its rarity, the family IP burden in its broadest sense (psychological, social, economic and physical) has not yet been evaluated. AIM To design a questionnaire allowing assessing the family burden of IP (F'BoIP). METHOD A questionnaire was developed using a standardized methodology for designing quality of life questionnaires according to the following steps: conception, development, and validation. A multidisciplinary working group was designed, including experts in questionnaire development, dermatologists specialised in IP patient care and representatives of the French IP association. A cultural and linguistic validation into US English was conducted, based on the original French version. RESULTS A 20-item conceptual questionnaire was generated. Subsequent confirmatory analyses produced a 20-item questionnaire grouped into four domains, demonstrating internal consistency (Cronbach's alpha: 0.93), reproducibility and high reliability. The F'BoIP questionnaire significantly correlated with other validated questionnaires: Family Dermatology Life Quality Index (F-DLQI), Perceived Stress Scale (PSS) and SF-12 mental and SF12 physical scores, indicating good external validity. CONCLUSION The F'BoIP questionnaire is the first specific tool to assess the family burden of IP and can be used by both family members of IP patients and by health care professionals. It is a valuable tool which evaluates medical and nonmedical strategies to improve the daily life of families affected by this orphan disease.
Collapse
Affiliation(s)
- Charles Taieb
- French Rare Diseases Healthcare Network Department of Dermatology, Necker Enfants Malades Hospital Paris, APHP, Paris, France. .,FIMARAD, Hôpital Necker-Enfants Malades, APHP, Paris, France.
| | - Smail Hadj-Rabia
- French Rare Diseases Healthcare Network Department of Dermatology, Necker Enfants Malades Hospital Paris, APHP, Paris, France.,Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP) and Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France
| | - Jacques Monnet
- French Association of Incontentia Pigmentosa Patients, Paris, France
| | | | - Christine Bodemer
- French Rare Diseases Healthcare Network Department of Dermatology, Necker Enfants Malades Hospital Paris, APHP, Paris, France.,Department of Dermatology, Reference Center for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP) and Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France
| | | |
Collapse
|
|
48
|
Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants. J Am Acad Dermatol 2019; 81:1142-1149. [DOI: 10.1016/j.jaad.2019.01.093] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/21/2018] [Revised: 01/15/2019] [Accepted: 01/21/2019] [Indexed: 11/20/2022]
|
|
49
|
Iguchi A, Aoki Y, Kitazawa K. Progressive skin rashes of incontinentia pigmenti during infancy. Pediatr Int 2019; 61:1065-1066. [PMID: 31663239 DOI: 10.1111/ped.13964] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/07/2019] [Revised: 06/03/2019] [Accepted: 07/08/2019] [Indexed: 11/30/2022]
Affiliation(s)
- Akihiro Iguchi
- Department of Pediatrics, Asahi General Hospital, Chiba, Japan
| | - Yoshihiro Aoki
- Department of Pediatrics, Asahi General Hospital, Chiba, Japan.,Department of Emergency and Critical Care Medicine, Aizawa Hospital, Nagano, Japan
| | | |
Collapse
|
|
50
|
A Female Infant With Linear Erythema and Papulovesicles at Birth and 5-Year Follow-up: Answer. Am J Dermatopathol 2019; 41:684-685. [PMID: 31433324 DOI: 10.1097/dad.0000000000001157] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
|