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Blue-Rubber-Bleb-Nevus Syndrome

definition

Disorder comprising multiple venous malformations of the skin and gastrointestinal tract. Other sites may also be involved. Most cases are sporadic, but familial occurrence has been reported with inheritance as an autosomal-dominant trait. The skin lesions are compressible, blue or purple, soft rubbery nodules with a wrinkled surface, varying in size from 0.1 to 5 cm in diameter. Analogous lesions also occur in the gastrointestinal tract at all levels, but particularly in the small intestine, where they frequently bleed. Lesions less commonly occur in other sites including the nasopharynx, lungs, liver, heart, and brain.

synonyms

Blue-Rubber-Bleb-Nevus Syndrome

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diagnosis: Blue-Rubber-Bleb-Nevus Syndrome