Blue rubber bleb nevus syndrome

Abstract

Blue rubber bleb nevus syndrome (BRBN) is a rare disease entity of which at least 22 cases of pediatric origin have been described since 1958. Only a few known cases have developed in adulthood. This syndrome is characterized by cutaneous, usually multiple, cavernous hemangiomas associated with similar lesions of the gastrointestinal tract. The cutaneous hemangiomas are a variant of the cavernous type, which are generally soft, rubbery, and compressible. Most cases are sporadic, although autosomal dominant inheritance has been described. Complications of this syndrome may include gastrointestinal bleeding leading to anemia, amputations of extremities, and hematologic disturbances such as chronic consumption coagulopathy. Children suffering from BRBN syndrome should be surveyed extensively for comprehensive care. This syndrome is important to consider in cases of unexplained intestinal bleeding. Therapy is mainly symptomatic and directed to complications.