Blue rubber bleb nevus syndrome: successful treatment with sirolimus.

Abstract:

:Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic vascular malformations of the skin, gastrointestinal system, and, less often, other organ systems. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. The most serious complication is abundant gastrointestinal bleeding. We describe the case of an 8-year-old girl with diagnosed BRBNS who had multiple venous malformations all over her body, importantly, throughout the gastrointestinal tract, mouth, esophagus, stomach, small bowel, and colon. She presented with recurrent massive gastrointestinal bleeding and soft tissue hematoma despite prednisolone and α-interferon therapy. We started low-dose sirolimus as an antiangiogenic agent. The vascular masses were reduced rapidly and there was no gastrointestinal bleeding and muscular hematoma after sirolimus therapy. There was no drug adverse reaction at 20-month follow-up. To the best of our knowledge, this is the first report related to the use of sirolimus in a patient with BRBNS.

journal_name

Pediatrics

journal_title

Pediatrics

authors

Yuksekkaya H,Ozbek O,Keser M,Toy H

doi

10.1542/peds.2010-3611

subject

Has Abstract

pub_date

2012-04-01 00:00:00

pages

e1080-4

issue

4

eissn

0031-4005

issn

1098-4275

pii

peds.2010-3611

journal_volume

129

pub_type

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