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Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.
- Source :
-
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver [Dig Liver Dis] 2019 Nov; Vol. 51 (11), pp. 1537-1546. Date of Electronic Publication: 2019 Jul 26. - Publication Year :
- 2019
-
Abstract
- Background: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations.<br />Aims: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied.<br />Patients and Methods: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS.<br />Results: 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.<br />Conclusions: 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.<br /> (Copyright © 2019 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.)
- Subjects :
- Child
Child, Preschool
Diagnosis, Differential
Endoscopy, Digestive System
Female
Humans
Infant
Interdisciplinary Communication
Male
Neoplasm Recurrence, Local
Retrospective Studies
Sclerotherapy
Sirolimus therapeutic use
Vascular Malformations diagnosis
Vascular Malformations therapy
Gastrointestinal Neoplasms diagnosis
Gastrointestinal Neoplasms therapy
Nevus, Blue diagnosis
Nevus, Blue therapy
Skin Neoplasms diagnosis
Skin Neoplasms therapy
Subjects
Details
- Language :
- English
- ISSN :
- 1878-3562
- Volume :
- 51
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
- Publication Type :
- Academic Journal
- Accession number :
- 31358484
- Full Text :
- https://doi.org/10.1016/j.dld.2019.04.020