Congenital Vascular Lesions of the Gastrointestinal Tract: Blue Rubber Bleb Nevus and Klippel-Trenaunay Syndromes

South Med J. 2001;94(4) 

In This Article

Abstract and Introduction

We present two cases of hemangiomatosis of the gastrointestinal tract. The first case describes a 59-year-old patient with upper gastrointestinal hemorrhage due to the Blue Rubber Bleb Nevus Syndrome. The second case illustrates a 26-year-old patient with recurrent rectal bleeding due to Klippel-Trenaunay Syndrome. These two syndromes are distinct disorders characterized by cavernous hemangiomas of the skin, soft-tissue, bones, and viscera. In addition, we review the available literature on the epidemiology, transmission, clinical features, associated conditions, diagnosis, and treatment of these two disorders.

Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare disease characterized by multiple "rubbery" blue nevi located both in the skin and internal organs. Although these vascular lesions were first described by Gascoyen[1] in 1860, the term blue rubber bleb nevus was first used by Bean[2] in 1958 to describe patients with vascular skin lesions and hemangiomas of the gastrointestinal tract. A MEDLINE search yielded more than 70 case reports published since 1966. We describe a patient who had acute upper gastrointestinal hemorrhage due to gastric blue rubber nevi.