Blue rubber bleb nevus syndrome: successful treatment with sirolimus

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 se...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2012-04, Vol.129 (4), p.e1080-e1084
Main Authors: Yuksekkaya, Hasan, Ozbek, Orhan, Keser, Melike, Toy, Hatice
Format: Article
Language:English
Subjects:
Biopsy
Blue rubber bleb nevus syndrome
Care and treatment
Case studies
Child
Childrens health
Diagnosis, Differential
Dose-Response Relationship, Drug
Drug therapy
Endoscopy, Gastrointestinal
Female
Follow-Up Studies
Gastrointestinal diseases
Gastrointestinal Hemorrhage - diagnosis
Gastrointestinal Hemorrhage - etiology
Gastrointestinal Neoplasms - complications
Gastrointestinal Neoplasms - diagnosis
Gastrointestinal Neoplasms - drug therapy
Humans
Immunosuppressive Agents - administration & dosage
Immunosuppressive Agents - therapeutic use
Medical case management
Medical treatment
Methods
Nevus, Blue - complications
Nevus, Blue - diagnosis
Nevus, Blue - drug therapy
Pediatrics
Sirolimus
Sirolimus - administration & dosage
Sirolimus - therapeutic use
Skin Neoplasms - complications
Skin Neoplasms - diagnosis
Skin Neoplasms - drug therapy
Tissues
Tomography, X-Ray Computed
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Description
Summary: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.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2010-3611