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Rimondi A, Sorge A, Murino A, Nandi N, Scaramella L, Vecchi M, Tontini GE, Elli L. Treatment options for gastrointestinal bleeding blue rubber bleb nevus syndrome: Systematic review. Dig Endosc 2024; 36:162-171. [PMID: 37029779 DOI: 10.1111/den.14564] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/21/2022] [Accepted: 04/05/2023] [Indexed: 04/09/2023]
Abstract
OBJECTIVES Blue rubber bleb nevus syndrome (BRBNS) is a rare challenging cause of gastrointestinal bleeding. We performed a systematic review of case reports and case series on BRBNS to gather information on the treatment options currently available. METHODS All studies reporting a case of BRBNS in humans were evaluated. Papers were ruled out if CARE criteria and explanations on patient's selection, ascertainment, causality, and reporting were not respected or identified. PROSPERO 2021 CRD 42021286982. RESULTS Blue rubber bleb nevus syndrome was treated in 106 cases from 76 reports. 57.5% of the population was under 18 years old, and up to 50% of the cases reported a previous treatment. Clinical success was achieved in 98 patients (92.4%). Three main types of interventions were identified: systemic drug therapy, endoscopy, and surgery. After BRBNS recurrence or previous therapy failure, systemic drug therapy emerged as a preferred second-line treatment over endoscopy (P = 0.01), but with a higher rate of reported adverse events when compared with surgery and endoscopy (P < 0.001). Endoscopic treatment was associated with a higher number of required sessions to achieve complete eradication when compared with surgery (P < 0.001). No differences between the three main areas were found in the overall follow-up time (P = 0.19) or in the recurrence rate (P = 0.45). CONCLUSION Endoscopy, surgery, and systemic drug therapy are feasible treatment options for BRBNS. Systemic drug therapy was the favorite second-line treatment after endoscopic failure or recurrence of BRBNS, but adverse events were more frequently reported.
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Affiliation(s)
- Alessandro Rimondi
- Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
| | - Andrea Sorge
- Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
- Gastroenterology and Endoscopy Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Alberto Murino
- Royal Free Unit for Endoscopy, The Royal Free Hospital and University College London Institute for Liver and Digestive Health, London, UK
- Department of Gastroenterology, Cleveland Clinic London, London, UK
| | - Nicoletta Nandi
- Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
- Gastroenterology and Endoscopy Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Lucia Scaramella
- Gastroenterology and Endoscopy Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Maurizio Vecchi
- Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
- Gastroenterology and Endoscopy Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Gian Eugenio Tontini
- Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
- Gastroenterology and Endoscopy Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
| | - Luca Elli
- Gastroenterology and Endoscopy Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
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Daviskiba S, Shuman H, Ayyash M, Vadlamudi G, Smietana S, Goyert G. A multidisciplinary approach to caring for a pregnant patient with blue rubber bleb nevus syndrome: A case report. Case Rep Womens Health 2022; 34:e00403. [PMID: 35299692 PMCID: PMC8920868 DOI: 10.1016/j.crwh.2022.e00403] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/06/2022] [Revised: 03/06/2022] [Accepted: 03/07/2022] [Indexed: 11/12/2022] Open
Abstract
Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder characterized by recurrent, multifocal venous malformations throughout the skin, soft tissue, and numerous internal organs. Pregnant women with BRBNS are at high risk of morbidity and mortality, and thus their care requires careful planning and surveillance. This report highlights the case of a 21-year-old woman, gravida 1, para 0, with BRBNS who was cared for by a multidisciplinary team of providers in obstetrics, maternal-fetal medicine, obstetric anesthesia, hematology, dermatology, gastroenterology, and otorhinolaryngology. The report provides a comprehensive guide to the multidisciplinary management of pregnancy and delivery for patients with BRBNS.
Blue rubber bleb nevus syndrome increases morbidity and mortality in pregnancy. Management requires a multidisciplinary approach to prenatal and intrapartum care. Careful planning and surveillance by multiple specialties is recommended.
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Efficacy and Safety of Sirolimus for Blue Rubber Bleb Nevus Syndrome: A Prospective Study. Am J Gastroenterol 2021; 116:1044-1052. [PMID: 33416235 DOI: 10.14309/ajg.0000000000001117] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/29/2020] [Accepted: 11/25/2020] [Indexed: 12/11/2022]
Abstract
INTRODUCTION Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic venous malformation (VM) disease. The characteristic gastrointestinal (GI) bleeding from multiple VM lesions causes severe chronic anemia which renders most patients depend on lifelong blood transfusion and frequent endoscopic treatment with dismayed outcomes. Although recent case reports suggest that oral sirolimus (rapamycin) is effective, a comprehensive evaluation of its efficacy and safety is in need. METHODS A prospective study was conducted for both pediatric and adult BRBNS patients with administration of sirolimus at the dose of 1.0 mg/m2 to maintain a trough concentration of 3-10 ng/mL. Laboratory tests including complete blood count, biochemical profile, D-dimer, and whole-body magnetic resonance imaging were performed at baseline and 3, 6, and 12 months after treatment. Clinical indicators such as hemoglobin level, lesion size, and transfusion need were evaluated. Adverse effects were recorded regularly. RESULTS A total of 11 patients (4 males and 7 females) with median age of 14 (range, 5-49) years were recruited. The average lesion size was reduced by 7.4% (P < 0.001), 9.3% (P < 0.001), and 13.0% (P < 0.05) at 3, 6, and 12 months of sirolimus treatment, respectively. Hemoglobin increased significantly after 6- and 12-month treatment (P = 0.006 and 0.019, respectively). Only 1 patient received blood transfusion once during the study. Patients' quality of life and coagulation function were improved. Grade 1-2 adverse effects including oral ulcers (81.8%), acne (27.3%), transient elevation of liver enzymes (18.2%), and hair loss (9.1%) were observed. DISCUSSION Sirolimus reduces the size of VMs, alleviates GI bleeding, and eliminates transfusion dependence of patients with BRBNS. The drug-related adverse effects are mild and mostly self-limited. These findings support sirolimus as a first-line treatment for GI and cutaneous VMs of BRBNS (see Visual abstract, Supplementary Digital Content, http://links.lww.com/AJG/B819).
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Marakhouski K, Sharafanovich E, Kolbik U, Sautin A, Nikalayeva K, Pataleta A, Sanfirau K, Svirsky A. Endoscopic treatment of blue rubber bleb nevus syndrome in a 4-year-old girl with long-term follow-up: A case report. World J Gastrointest Endosc 2021; 13:90-96. [PMID: 33763189 PMCID: PMC7958468 DOI: 10.4253/wjge.v13.i3.90] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/04/2020] [Revised: 01/01/2021] [Accepted: 01/28/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disease, difficult to diagnose and choose a treatment method, especially in young children. There are several limiting factors to the use of enteroscopy for diagnostics and treatment in pediatric patients, in general. The literature on BRBNS cases is limited and presents various therapeutic approaches.
CASE SUMMARY We present here a case of BRBNS involving a 4-year-old female, whose intestinal venous lesions were successfully treated by endoscopic sclerotherapy and aethoxysklerol foam. Skin lesions, typical for BRBNS, appeared on the 8th d of the child’s life and their number increased over the next several months. The child also experienced episodes of critical decrease in hemoglobin level (by as much as 52 g/L) for several years, requiring iron supplementation and several blood transfusions. Video capsule endoscopy revealed numerous vascular formations in the small bowel. The combined findings of gastrointestinal venous formations and skin lesions prompted BRBNS diagnosis. Single-balloon enteroscopy was used to perform sclerotherapy, with aethoxysklerol foam. A positive effect was observed within 19 mo of follow-up. We continue to monitor the patient’s hemoglobin level, every 2 wk, and it has remained satisfactory (> 120 g/L).
CONCLUSION Endoscopic sclerotherapy can be effective in the clinical management of gastrointestinal manifestations of BRBNS in young children.
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Affiliation(s)
- Kirill Marakhouski
- Diagnostic Division, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220113, Belarus
| | - Elena Sharafanovich
- Department of Elective Surgery, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220113, Belarus
| | - Uladzislau Kolbik
- Department of Elective Surgery, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220113, Belarus
| | - Aleh Sautin
- Diagnostic Division, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220113, Belarus
| | - Katsiaryna Nikalayeva
- Department of Pediatric Surgery, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220013, Belarus
| | - Aleh Pataleta
- Diagnostic Division, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220113, Belarus
| | - Kiryl Sanfirau
- Diagnostic Division, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220113, Belarus
| | - Aliaksandr Svirsky
- Department of Pediatric Surgery, Republican Scientific and Practical Center of Pediatric Surgery, Minsk 220013, Belarus
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Khatri D, Gosal JS, Bhaisora KS, Das KK, Srivastava AK, Behari S. Orbital Hemangioma in Bean Syndrome: The Lure of the Red Herring. World Neurosurg 2018; 123:272-280. [PMID: 30576827 DOI: 10.1016/j.wneu.2018.11.257] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/08/2018] [Revised: 11/29/2018] [Accepted: 11/30/2018] [Indexed: 01/10/2023]
Abstract
BACKGROUND Bean syndrome (BS) is a rare congenital low-flow angiomatosis affecting multiple organ systems. About 200 cases with heterogeneous clinical presentation have been reported worldwide. The exact etiopathology is still not known. Most reported cases have occurred sporadically, although autosomal dominant inheritance has been suggested. BS predominantly presents with characteristic multifocal mucocutaneous lesions and often leads to refractory anemia caused by occult blood loss from the alimentary tract. Apart from the mucocutaneous and gastrointestinal tract involvement, this syndrome may rarely affect the central nervous system in the form of multiple venous anomalies. Patients often approach a dermatologist or gastroenterologist for treatment and this entity is usually less known among neurosurgeons. To the best of our knowledge, only 3 cases of sinus pericranii and 12 cases with orbital hemangioma as a presenting feature in BS have been reported. CASE DESCRIPTION Keeping neurosurgical management of this rare entity in mind, we discuss a case of a young female who presented with congenital naso-orbital swelling with a history of multiple-stage embolization and surgical excision of the orbital mass in her childhood. Now, she presented with recurrent swelling involving the right side of the forehead for cosmetic concerns and was subsequently diagnosed to have BS at 23 years of age. CONCLUSIONS Blue rubber bleb nevus syndrome is a lesser known entity among neurosurgeons that requires a high index of clinical suspicion for diagnosis. Red herrings, such as in our case, must prompt a search for characteristic mucocutaneous lesions and other associated lesions of blue rubber bleb nevus syndrome. A timely diagnosis may improve the quality of life and help avoid life-threatening complications.
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Affiliation(s)
- Deepak Khatri
- Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Jaskaran Singh Gosal
- Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Kamlesh Singh Bhaisora
- Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
| | - Kuntal Kanti Das
- Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Arun Kumar Srivastava
- Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Sanjay Behari
- Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
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El Bakkaly A, Ettayebi F, Oubeja H, Erraji M, Zerhouni H. [Bean's syndrome in children: about two cases]. Pan Afr Med J 2017; 28:102. [PMID: 29515720 PMCID: PMC5837144 DOI: 10.11604/pamj.2017.28.102.11109] [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: 11/06/2016] [Accepted: 08/24/2017] [Indexed: 11/11/2022] Open
Abstract
Diffuse angiomatosis or Bean's syndrome is a rare disease characterized by venous malformations mainly involving the skin and the digestive tract which can result in hemorrhage of variable severity. This study reports the case of two children aged 5 and 9 and a half years respectively with diffuse angiomatosis who had been treated in the Department of Emergency Paediatric Surgery over the years. The diagnosis was based on rectal bleeding and/or melenas causing severe anemia requiring regular transfusions in both patients as well as skin angiomas occurrence at the level of the limbs. Radiological evaluation showed the presence of multiple lesions at the level of the jejunum and ileum consistent with small intestinal angiomatosis in the child aged 9 and a half years. It didn't show abdominal lesions in the child aged 5 years. The two patients were admitted to the operating block. Angiomas were surgically individualized. Some of them were actively bleeding. Enterotomy was performed. Postoperative sequelae was marked by the stop of the bleedings. This study aims to update the current understanding of this rare pathology as well as the benefit of surgical treatment in controlling the complications caused by this pathology and in reducing the frequency of transfusions.
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Affiliation(s)
- Achraf El Bakkaly
- Service des Urgences Chirurgicales Pédiatriques, CHU Ibn Sina, Faculté de Médecine Mohammed V, Rabat, Maroc
| | - Fouad Ettayebi
- Service des Urgences Chirurgicales Pédiatriques, CHU Ibn Sina, Faculté de Médecine Mohammed V, Rabat, Maroc
| | - Houda Oubeja
- Service des Urgences Chirurgicales Pédiatriques, CHU Ibn Sina, Faculté de Médecine Mohammed V, Rabat, Maroc
| | - Mounir Erraji
- Service des Urgences Chirurgicales Pédiatriques, CHU Ibn Sina, Faculté de Médecine Mohammed V, Rabat, Maroc
| | - Hicham Zerhouni
- Service des Urgences Chirurgicales Pédiatriques, CHU Ibn Sina, Faculté de Médecine Mohammed V, Rabat, Maroc
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Galey J, Bharadwaj S, Crimmins S, Hong CM, Malinow AM. Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome. ACTA ACUST UNITED AC 2016; 6:146-9. [PMID: 26579613 DOI: 10.1213/xaa.0000000000000265] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Abstract
Blue rubber bleb nevus syndrome, a syndrome of multifocal venous malformations, has been reported rarely during pregnancy. This syndrome has been associated with airway lesions in some patients and neuraxial abnormalities in other patients. We report the anesthetic and obstetric management of a patient with an extensive distribution of both airway and neuraxial lesions.
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Affiliation(s)
- Jessica Galey
- From the Departments of *Anesthesiology and †Obstetrics/Gynecology and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, Maryland
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Yang X, Wei M, Wang Z. A Rare Cause of Recurrent Hematochezia. Gastroenterology 2016; 150:568-9. [PMID: 26829300 DOI: 10.1053/j.gastro.2015.12.010] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/29/2015] [Accepted: 12/04/2015] [Indexed: 02/05/2023]
Affiliation(s)
- Xuyang Yang
- Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
| | - Mingtian Wei
- Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
| | - Ziqiang Wang
- Department of Gastrointestinal Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
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9
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Saeed ID, Kheroo KN, Abdullah TJ, Salih KA. Blue rubber bleb naevus syndrome: a rare cause of iron deficiency anaemia. BMJ Case Rep 2014; 2014:bcr-2014-205144. [PMID: 25388891 DOI: 10.1136/bcr-2014-205144] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/22/2022] Open
Abstract
We report a case in an adolescent male patient with a history of chronic fatigue, headache and unexplained iron deficiency anaemia since 2007. Numerous bluish-black lesions were found over his body surface. A surgical scar from a previous lumpectomy with a small lump were noted at the left submandibular region and another smaller lesion on the left lobe of the thyroid was also palpated. His most recent blood indices displayed the presence of moderately severe iron deficiency anaemia. Endoscopic evaluation exhibited multiple vascular lesions throughout the gastrointestinal tract. MRI of the brain revealed an irregular intracranial vascular lesion at the cerebellopontine angle. Further work-up with abdominal CT demonstrated the absence of similar lesions in the extraintestinal abdominal organs. Putting these together with histological findings, the diagnosis of blue rubber bleb naevus syndrome was confirmed. The patient was treated conservatively at this point and future management planning was discussed with him.
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Affiliation(s)
- Ismail D Saeed
- Department of Medicine, Mosul College of Medicine, Mosul, Iraq
| | - Khalid N Kheroo
- Department of Medicine, Mosul College of Medicine, Mosul, Iraq
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10
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Palleschi GM, Torchia D, Fabbri P. Blue Rubber-Bleb Nevus Syndrome: Report of a Case Associated with Osteoid Osteomas. J Dermatol 2014; 32:589-93. [PMID: 16335877 DOI: 10.1111/j.1346-8138.2005.tb00804.x] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Abstract
Blue rubber-bleb nevus syndrome (BRBNS), or Bean's syndrome, is a rare angiomatosis characterized by multiple cavernous hemangiomas of the skin, mucosae and frequently of other sites. A 49-year-old male patient had been affected since birth by multiple angiomas localized in the skin, lips, oral cavity, cranial theca, and central nervous system; intrauterine rupture of angiomas in the right parietal lobe had caused partial hypotrophic paralysis of the left hemisoma. In addition to BRBNS, the patient was affected by three osteoid osteomas: this never-described clinical association is here discussed.
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11
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Familial blue rubber bleb nevus syndrome in pregnancy with spinal epidural involvement. Case Rep Obstet Gynecol 2013; 2013:141506. [PMID: 23762681 PMCID: PMC3665244 DOI: 10.1155/2013/141506] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2013] [Accepted: 04/19/2013] [Indexed: 12/20/2022] Open
Abstract
Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder characterized by multiple venous malformations (VMs) of the skin, gastrointestinal tract, and other organs. To date, several cases of sporadic BRBNS involving various parts of the pregnant woman's body have been reported; however, BRBNS in pregnancy with spinal epidural involvement has not been reported. Here, we describe the clinical features and management of familial BRBNS in pregnancy. The patient presented with multiple VMs on her head, neck, floor of the mouth, trunk, leg, foot, and vulva and spinal epidural lesions. The patient's mother and sister also exhibited multiple VMs similar lesions, indicating a familial form of BRBNS. Cesarean section under general anesthesia was performed, and a healthy male neonate was delivered. The mother's postoperative course was uneventful and her VMs decreased in size after delivery. Physicians should consider the possibility of systemic diseases and familial inheritance in cases of VMs.
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13
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Kishikawa H, Okada Y, Kawahara T, Saito K, Tanaka Y. A case of blue rubber bleb nevus syndrome treated by etidronate. J Bone Miner Metab 2007; 25:138-41. [PMID: 17323184 DOI: 10.1007/s00774-006-0740-x] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/15/2006] [Accepted: 11/09/2006] [Indexed: 01/10/2023]
Affiliation(s)
- Hirofumi Kishikawa
- First Department of Internal Medicine, University of Occupational and Environmental Health, School of Medicine, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan
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14
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Lu R, Krathen RA, Sanchez RL, May NC, Hsu S. Multiple glomangiomas: Potential for confusion with blue rubber bleb nevus syndrome. J Am Acad Dermatol 2005; 52:731-2. [PMID: 15793549 DOI: 10.1016/j.jaad.2004.12.019] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/17/2023]
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Giordano C, Battagliese A, di Gioia CRT, Campagna D, Benedetti F, Travaglini C, Gallo P, d' Amati G. Blue rubber bleb nevus syndrome and pulmonary hypertension: an unusual association. Cardiovasc Pathol 2005; 13:317-22. [PMID: 15556778 DOI: 10.1016/j.carpath.2004.07.004] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/30/2004] [Accepted: 07/16/2004] [Indexed: 11/16/2022] Open
Abstract
INTRODUCTION Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malformations in the skin, gastrointestinal tract and, less often, in other internal organs and the brain. CASE REPORT A 36-year-old man with past history of BRBNS was admitted to our hospital for progressive dyspnea and fatigue. Primary pulmonary hypertension (PPH) was diagnosed. He then developed acute abdominal pain and dyspnea, dying in a few hours due to sudden cardiac arrest. Postmortem examination demonstrated angiomatous lesions located in the skin, small bowel, heart, lungs, liver and thyroid. The lesions were slightly raised, soft and compressible and microscopically consisted of dilated vascular channels lined by a flattened endothelium. The vascular wall was formed by several layers of smooth muscle cells, intermixed with abundant aggregates of elastic lamellae and thin collagen fibers. Luminal thrombi were a frequent finding. In the small bowel, we identified the presence of an abnormally large artery directly opening into a thin-walled venous channel. The most striking finding in the lungs was the presence of thrombi of varying age in the lumen of segmental and elastic arteries, as well as muscular arteries and arterioles. Severe medial hypertrophy of muscular arteries and muscolarization of arterioles were also present. Intimal proliferative lesions and plexiform lesions were never observed. CONCLUSION The pulmonary findings are consistent with recurrent thromboembolic events from shunts in the visceral lesions. To our knowledge, this is the first report of BRBNS with visceral arterovenous (AV) fistulae complicated by thromboembolic pulmonary hypertension (PH).
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Affiliation(s)
- Carla Giordano
- Department of Experimental Medicine and Pathology, La Sapienza University, Viale Regina Elena 324, Rome 00161, Italy
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Gilbey LK, Girod CE. Blue rubber bleb nevus syndrome: endobronchial involvement presenting as chronic cough. Chest 2003; 124:760-3. [PMID: 12907572 DOI: 10.1378/chest.124.2.760] [Citation(s) in RCA: 18] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/01/2022] Open
Abstract
This case report describes a rare presentation of chronic cough secondary to endobronchial involvement with blue rubber bleb nevus syndrome (BRBNS) lesions. BRNBS is a rare syndrome characterized with cavernous hemangiomas involving the skin and GI tract. We report the case of a 37-year-old woman, with known BRBNS, who acquired an intractable cough with a radiograph revealing multiple pulmonary nodules. A bronchoscopy demonstrated various bluish, raised, and hypervascular lesions characteristic for BRBNS involving the right mainstem bronchus and segmental bronchi. To our knowledge, this is the first report of endobronchial involvement with BRBNS.
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Affiliation(s)
- Laura K Gilbey
- Division of Pulmonary and Critical Care Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
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17
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Villalain L, Junquera LM, Díaz M, González M. Blue rubber bleb nevus syndrome: immunohistochemical study. Ann Otol Rhinol Laryngol 2003; 112:647-50. [PMID: 12903687 DOI: 10.1177/000348940311200713] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Abstract
Blue rubber bleb nevus is a rare entity consisting of distinctive angiomas in the skin and gastrointestinal tract, leading to occult or profound gastrointestinal bleeding and chronic anemia. The efficacy has been documented of systemic treatment with corticoids, interferon, vincristine, and, more recently, subcutaneous octreotide in the presence of active lesion proliferation or disseminated intravascular coagulation. A case of blue rubber bleb nevus syndrome with oral hemangiomas in a 24-year-old woman is reported. The surgical specimens were subjected to immunohistochemical study, which showed all of the hemangiomas to be in an inactive phase.
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Affiliation(s)
- Lucas Villalain
- Department of Maxillofacial Surgery, University of Oviedo, Asturias Central Hospital, Oviedo, Spain
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18
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Vig EK, Brodkin KI, Raugi GJ, Gladstone H. Blue rubber bleb nevus syndrome in a patient with ataxia and dementia. J Geriatr Psychiatry Neurol 2002; 15:7-11. [PMID: 11936246 DOI: 10.1177/089198870201500102] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
Abstract
Blue rubber bleb nevus syndrome (BRBNS), an uncommon disorder characterized by cavernous hemangiomas, most often of the skin and gastrointestinal tract, is usually diagnosed during childhood and young adulthood. We made this diagnosis in an octogenarian referred to a geriatric medicine clinic because of concerns about his ability to live independently. Ataxia, dementia, focal neurologic signs, and bluish/purplish vascular nodules on his lips, buccal mucosa, tongue, chest, and neck were noted on physical examination. Magnetic resonance imaging (MRI) revealed an old left parietal infarction, multiple cavernous hemangiomas most densely concentrated in the subcortical structures and cerebellum, and areas of hemosiderin deposition. Skin biopsy findings were consistent with hemangioma. The physical examination, MRI, and skin biopsy made a diagnosis of BRBNS likely. The patient's ataxia, dementia, and other neurologic signs can be explained by previous hemorrhage from the vascular malformations in his brain. Blue rubber bleb nevus syndrome is an uncommon cause of a relatively common geriatric syndrome presentation.
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Affiliation(s)
- Elizabeth K Vig
- Division of Gerontology and Geriatric Medicine, Department of Medicine, University of Washington, Seattle, USA
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Dwivedi M, Misra SP. Blue rubber bleb nevus syndrome causing upper GI hemorrhage: a novel management approach and review. Gastrointest Endosc 2002; 55:943-6. [PMID: 12024162 DOI: 10.1067/mge.2002.124212] [Citation(s) in RCA: 21] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Affiliation(s)
- Manisha Dwivedi
- Department of Gastroenterology, Moti Lal Nehru Medical College, Allababad, India
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20
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Wada O, Unno N, Matsuoka R, Taketani Y. A case report: pregnancy complicated by blue rubber-bleb nevus syndrome. J Obstet Gynaecol Res 1999; 25:261-3. [PMID: 10540529 DOI: 10.1111/j.1447-0756.1999.tb01159.x] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
Blue rubber-bleb nevus (BRBN) syndrome, first reported in 1958 by Bean, manifests with multiple hemangiomas located in the skin and gastarointestinal tract. Characteristic laboratory data include chronic anemia with iron deficiency and consumption coagulopathy. We describe herein a pregnancy complicated by BRBN syndrome resulting in the delivery of a male infant by cesarean section.
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Affiliation(s)
- O Wada
- Department of Obstetrics and Gynecology, Yaizu Municipal Hospital, Shizuoka, Japan
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21
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Hassan E, Giannakopoulou C, Stefanaki K, Mathioudaki-Koumantaki E, Delides G, Koumantakis E. Congenital capillary hemangioma and its therapeutic approach in infants: a case report. J Dermatol 1998; 25:673-6. [PMID: 9830268 DOI: 10.1111/j.1346-8138.1998.tb02479.x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Abstract
Hemangiomas, common congenital lesions in infants and children, are thought to arise when islands of angioblastic tissue fail to connect with the developing vascular system. They are not usually life-threatening. A case of congenital capillary hemangioma in an infant, which was surgically excised, is reported, and therapeutic approaches are discussed.
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Affiliation(s)
- E Hassan
- Department of Obstetrics and Gynecology, University of Crete, Greece
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Leblanc R, Melanson D, Wilkinson RD. Hereditary neurocutaneous angiomatosis. Report of four cases. J Neurosurg 1996; 85:1135-42. [PMID: 8929507 DOI: 10.3171/jns.1996.85.6.1135] [Citation(s) in RCA: 19] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
The authors report the coexistence of vascular nevi (hemangiomas and arteriovenous malformations (AVMs) of the skin) with AVMs and venous malformations of the brain in male siblings from two related but nonconsanguineous families of three generations. The proband, his siblings, parents, aunts, uncles, and cousins were examined, underwent magnetic resonance (MR) imaging and MR angiography, and when appropriate, cerebral angiography. A father had vascular nevi and a mother, his sister, had an azygos anterior cerebral artery. No other cutaneous or cerebrovascular malformations were present in the parents. Each of the two families had two boys and one girl, 9 to 18 years of age. All the children had vascular nevi and all of the boys had coexisting cerebrovascular malformations: AVMs in three, and a venous malformation in another. One boy had three cerebral AVMs. Two boys had a cerebral hemorrhage, and one also had focal motor seizures. The skin lesions were not those of the Sturge-Weber-Dimitri, Rendu-Osler-Weber, or Wybum-Mason syndromes. The association of cutaneous and cerebrovascular malformations was seen only in males in these families. but females have also been reported in the literature. The results obtained in these families and three other families reported from Western and Central Europe indicate that the association of cerebral and cutaneous vascular hamartomas constitutes a distinct, hereditary clinicopathological entity with autosomal dominant inheritance and variable penetrance. The clinical manifestations of this syndrome are visible, painful vascular nevi, epilepsy, cerebral hemorrhage, and focal neurological deficits. The preponderance of male patients with the full expression of the syndrome suggests a possible hormonal influence on the expression of the gene.
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Affiliation(s)
- R Leblanc
- Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, Quebec, Canada
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Sumi Y, Taguchi N, Kaneda T. Blue rubber bleb nevus syndrome with oral hemangiomas. ORAL SURGERY, ORAL MEDICINE, AND ORAL PATHOLOGY 1991; 71:84-6. [PMID: 1994329 DOI: 10.1016/0030-4220(91)90528-k] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]
Abstract
A case of blue rubber bleb nevus syndrome with oral hemangiomas is reported. Attention is directed to this syndrome because, although rare, it is usually associated with oral lesions. The blue rubber bleb nevus syndrome should always be considered a possibility in patients with oral hemangiomas and bluish skin nodules.
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Affiliation(s)
- Y Sumi
- Department of Oral and Maxillofacial Surgery, Komaki City Hospital
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