Rectal Bleeding in a Young Patient with Cavernous Hemangioma and Bone Hypertrophy

A 22-year-old man with history of intermittent rectal bleeding since infancy referred for colonoscopy. His vital signs and lab results included blood pressure: 120/80, pulse rate: 102, hemoglobin 9 g/dL, hematocrit 27%, and serum ferritin 7μg/L. On physical examination, he was pale with a slightly raised deep violet colored lesion (“port-wine”) on the flank and cavernous hemangiomas with a verrucous quality around the umbilicus and trunk (figures A, and B). Soft tissue and bone hypertrophy with fused or extra toes were also present on the feet (figure C). Colonoscopy revealed diffuse cavernous hemangioma with tortuous dilated blood vessels, elevated red-wine nodules with poorly defined margins and normal mucosa between affected areas extending from lower rectum to sigmoid (figures D, E). The radial ultrasonography of rectum showed submucosal vascular signal (figure F). 73