title: 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.
authors.affiliation: Department of Pediatric Gastroenterology, Medicine of Faculty, Selcuk University, Konya, Turkey. dryuksek@yahoo.com
authors.forename: Hasan
authors.initials: H
authors.lastname: Yuksekkaya
authors.forename: Orhan
authors.initials: O
authors.lastname: Ozbek
authors.forename: Melike
authors.initials: M
authors.lastname: Keser
authors.forename: Hatice
authors.initials: H
authors.lastname: Toy
mesh_terms: D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D004305:Dose-Response Relationship, Drug; D016099:Endoscopy, Gastrointestinal; D005260:Female; D005500:Follow-Up Studies; D006471:Gastrointestinal Hemorrhage / Q000175:diagnosis / Q000209:etiology; D005770:Gastrointestinal Neoplasms / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage / Q000627:therapeutic use; D018329:Nevus, Blue / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D020123:Sirolimus / Q000008:administration & dosage / Q000627:therapeutic use*; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D014057:Tomography, X-Ray Computed
chemical_list: D007166:Immunosuppressive Agents; D020123:Sirolimus