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A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy

Publication at Faculty of Medicine in Hradec Králové |
2007

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular malformation syndrome with cutaneous and visceral lesions frequently associated with serious, even fatal bleeding and anaemia. The syndrome is rare with possible dominant inheritance due to a gene mutation mapped on the short arm of chromosome 9.

Intra-operative enteroscopy (IOE) is the best method of identification of all lesions (particularly the tiny ones) and its treatment by endoscopic electro-coagulation or surgical excision. Capsule wireless endoscopy is optimal for screening before the IOE and for monitoring the effect of therapy in patients with BRBNS.