Blue rubber bleb nevus syndrome: imaging of small bowel lesions with peroral CT enterography

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare entity that consists of multiple venous malformations involving several organ systems, particularly the skin and the gastrointestinal tract. The diagnosis is based on clinical findings; however, imaging is required to investigate the extent of involvement and complications. A 17-year-old patient, with multiple blue skin nevus, was admitted to the emergency room of our hospital with severe gastrointestinal bleeding and melena. Upper endoscopy showed two wine-color vascular lesions in the duodenum, and colonoscopy revealed multiple lesions in the colon. Peroral CT enterography demonstrated multiple (more than 30) contrast-enhanced polypoid small bowel lesions, ranging in size from 5 to 16 mm. Some lesions contained millimetric calcifications representing phleboliths. The patient also had three pancreatic lesions which showed homogenous enhancement on the delayed images. Our findings show that peroral CT enterography is useful to demonstrate the extent of small bowel lesions of BRBNS. This is the first report of pancreatic involvement of BRBNS.