Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.
Child
Child, Preschool
Diagnosis, Differential
Endoscopy, Digestive System
Female
Gastrointestinal Neoplasms
/ diagnosis
Humans
Infant
Interdisciplinary Communication
Male
Neoplasm Recurrence, Local
Nevus, Blue
/ diagnosis
Retrospective Studies
Sclerotherapy
Sirolimus
/ therapeutic use
Skin Neoplasms
/ diagnosis
Vascular Malformations
/ diagnosis
Gastrointestinal bleeding
Paediatrics
Sirolimus
Vascular malformations
Journal
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
ISSN: 1878-3562
Titre abrégé: Dig Liver Dis
Pays: Netherlands
ID NLM: 100958385
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
17
11
2018
revised:
10
03
2019
accepted:
01
04
2019
pubmed:
31
7
2019
medline:
5
6
2020
entrez:
31
7
2019
Statut:
ppublish
Résumé
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.
Sections du résumé
BACKGROUND
Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations.
AIMS
To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied.
PATIENTS AND METHODS
Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS.
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.
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.
Identifiants
pubmed: 31358484
pii: S1590-8658(19)30679-6
doi: 10.1016/j.dld.2019.04.020
pii:
doi:
Substances chimiques
Sirolimus
W36ZG6FT64
Types de publication
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
1537-1546Informations de copyright
Copyright © 2019 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.