Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis

( Fig. 1 ). The lesions were present since childhood and although they grew in size, they only troubled the patient in rare episodes of self-limiting bleeding secondary to trauma. Laboratory tests were normal. She underwent a colonoscopy and an upper endoscopy and we noticed multiple purplish lesions of similar characteristics in the rectum ( Fig. 2 ), hypopharynx, and esophagus ( Fig. 3 ), without stigmata of recent hemorrhage, but not in the colon, stomach, or duodenum. The characteristics of these lesions were consistent with hemangiomas. Smallbowel video capsule endoscopy also revealed multiple hemangiomas in the jejunum and distal ileum. We assumed the diagnosis of a multifocal venous vascular malformation, with cutaneous and gastrointestinal involvement. A computed tomography of the brain, chest, abdomen, and pelvis was performed, showing no other vascular malformations or bone deformities with the exception of those in the cervical spine consistent with rheumatoid arthritis. Given the clinical and imagiological features, we established the diagnosis of a sporadic type of blue rubber bleb nevus syndrome (BRBNS). BRBNS is a rare syndrome and should be considered in the presence of multifocal