Blue Rubber Bleb Nevus Syndrome: Gastrointestinal Features

Abstract

Blue rubber bleb nevus syndrome is a rare condition that is estimated to affect fewer than 200,000 people in the United States.

Most patients with this syndrome are probably asymptomatic. Gastrointestinal (GI) signs and symptoms when present include:

Bluish vascular nevi of the skin, hemangiomas of the GI tract, and GI hemorrhage

Cutaneous lesions are compressible cavernous hemangiomas

GI lesions are typically found in the small intestine but can be found throughout the GI tract

When viewed endoscopically the lesions characteristically appear as a discrete mucosal nodule with an overlying red cap

Often present at birth or develops in early childhood