Blue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection

Am Surg. 2022 Apr 17;31348221084949. doi: 10.1177/00031348221084949. Online ahead of print.


Blue Rubber Bleb Nevus Syndrome is a congenital rarity that manifests as vascular malformations throughout the body, including the gastrointestinal tract. With fewer than 300 cases reported, the etiology and clinical course is poorly understood; however, the literature suggests TEK mutations on chromosome 9 result in unregulated angiogenesis. We present the case of a young female treated for anemia of unknown etiology who presented in hemorrhagic shock due to gastrointestinal hemorrhage necessitating small bowel resection, with cutaneous, intestinal, hepatic, and lingual vascular malformations associated with a single somatic pathologic TEK mutation. Although uncommon, this case suggests that Blue Rubber Bleb Nevus Syndrome should be considered in the differential of a patient with persistent anemia and cutaneous lesions, carrying the potential for multiple gastrointestinal vascular malformations progressing to hemorrhage necessitating operative management. Additionally, a severe phenotype can occur without a double-hit TEK mutation.

Keywords: gastrointestinal; general surgery; pediatric surgery.