Blue Rubber Bleb Nevus Syndrome

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by the presence of cutaneous and gastrointestinal (GI) hemangiomas. These BRBNS-associated hemangiomas, possibly numbering into the hundreds, may also be identified in multiple visceral locations. Although the presence of benign cutaneous lesions is of small concern, GI lesions are cause for bleeding. Heavy visceral organ involvement can lead to intravascular coagulation, consumptive coagulathopy, and organ failure. Therefore, GI-related complaints, anemia, the visual identification of a cutaneous blue-colored lesion located on the upper extremity or trunk, and multiple visceral hemangiomas involving a large portion of the organ may indicate the presence of BRBNS. It is important that this unusual combination of patient signs, symptoms, and sonographic findings be presented to the interpreting physician to facilitate inclusion of this rare condition as a possible differential diagnosis to be considered.