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Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults. | LitMetric

Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults.

Singapore Med J

Department of General Surgery, Upper Gastrointestinal Surgery Unit, Christian Medical College and Hospital, Vellore, Tamil Nadu, India, 632 004.

Published: November 2014

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by venous malformations in the skin, gastrointestinal tract and other parts of the body. Its presentation is usually sporadic, although cases of autosomal dominant inheritance have been reported. Usually seen in children, BRBNS presentation in adults is rare. Symptoms at presentation depend on the organs involved; patients with BRBNS may present with acute or chronic gastrointestinal bleed. We herein report a rare presentation of BRBNS in an adult who suffered from intermittent abdominal pain and melaena for three years. Contrast-enhanced computed tomography revealed a jejunojejunal intussusception with a vascular malformation as the lead point. The patient underwent laparotomy with resection of the intussuscepted bowel segment. Recovery was uneventful. In spite of a wide range of therapeutic options for the management of BRBNS described in the literature, the efficacy of those available therapies, including surgical excision, is not well established.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294001PMC
http://dx.doi.org/10.11622/smedj.2014164DOI Listing

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