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For: Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic criteria update. Clin Genet 2013;85:536-42. [DOI: 10.1111/cge.12223] [Citation(s) in RCA: 111] [Impact Index Per Article: 9.3] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2013] [Revised: 06/24/2013] [Accepted: 06/24/2013] [Indexed: 12/21/2022]
Number Cited by Other Article(s)
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]
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
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]
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
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
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
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
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]
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
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]
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
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
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]
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
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
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
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
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
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
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]
21
Islam YFK, Khurshid SG. Incontinentia pigmenti and the eye. Curr Opin Ophthalmol 2022;33:525-531. [PMID: 35819905 DOI: 10.1097/icu.0000000000000863] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022]
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
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
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]
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]
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]
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]
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]
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]
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]
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]
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]
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]
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
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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]
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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
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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]
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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]
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Abdel-Naser MB. The color of skin: gray diseases of the skin, nails, and mucosa. Clin Dermatol 2020;37:507-515. [PMID: 31896405 DOI: 10.1016/j.clindermatol.2019.07.011] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/28/2022]
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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
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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]
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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]
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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
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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]
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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]
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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]
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