Journal article
Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series
Digestive and liver disease, Vol.51(11), pp.1537-1546
11/2019
DOI: 10.1016/j.dld.2019.04.020
PMID: 31358484
Abstract
Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations.
To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied.
Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS.
Eighteen patients diagnosed with BRBNS were included. Cutaneous venous malformations were observed in 78% and gastrointestinal venous malformations in 89%. Lesions were also found in other organs including muscles, joints, central nervous system, eyes, parotid gland, spine, kidneys and lungs. Gastrointestinal lesions were more common in the small intestine than in stomach or colon. The management varied significantly among centers. Endoscopic therapy and surgical therapy alone failed to prevent recurrence of lesions. In younger children and in patients with musculoskeletal or other organ involvement, sirolimus was used with 100% success rate in our series (5 patients treated) although poor compliance with subtherapeutic sirolimus trough levels led to recurrence in a minority.
Considering the multi-organ involvement in BRBNS, diagnosis and management requires a multidisciplinary approach. The treatment includes conservative, medical, endoscopic and surgical options. Prospective multicenter studies are needed to identify the optimal management of this rare condition.
Details
- Title: Subtitle
- Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series
- Creators
- Sara Isoldi - Centre of Paediatric Gastroenterology, Sheffield, United KingdomDalia Belsha - Sheffield Children's HospitalIntan Yeop - Great Ormond Street HospitalAliye Uc - University of IowaNoam Zevit - Schneider Children's Medical CenterPetar Mamula - Children's Hospital of PhiladelphiaAnthony Meneloas Loizides - Children's Hospital at MontefioreMerit Tabbers - Academic Medical CenterDon Cameron - Monash University and Southern Health, Parkville, Victoria, AustraliaAndrew S Day - University of OtagoMarwa Abu-El-Haija - Roy J. and Lucille A. Carver College of MedicineVoranush Chongsrisawat - Chulalongkorn UniversityGraham Briars - Norfolk and Norwich University HospitalKeith J Lindley - Great Ormond Street HospitalJutta Koeglmeier - Great Ormond Street HospitalNeil Shah - Great Ormond Street HospitalJohn Harper - University College LondonSamira Batul Syed - Great Ormond Street HospitalMike Thomson - Sheffield Children's Hospital
- Resource Type
- Journal article
- Publication Details
- Digestive and liver disease, Vol.51(11), pp.1537-1546
- DOI
- 10.1016/j.dld.2019.04.020
- PMID
- 31358484
- ISSN
- 1590-8658
- eISSN
- 1878-3562
- Language
- English
- Date published
- 11/2019
- Academic Unit
- Stead Family Department of Pediatrics; Radiation Oncology; Gastroenterology, Hepatology, Pancreatology, and Nutrition
- Record Identifier
- 9984313088402771
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