Regional phacomatosis with cerebral AVMs and cavernous hemangioma of the skull--report of a case

We report the coexistence of multiple arteriovenous malformations (AVMs) and hemangioma of the skull in a 38-year-old man with associated varicose veins in his scalp. The patient also had hypotrophy of all right limb tissues with skin pigmentation and syndactyly of both feet. CT scans revealed intraventricular hemorrhage and a hemangioma of the skull at the posterior fossa. Because of the location of the arteriovenous malformations, surgical evacuation and resection were not attempted. The hemangioma was totally removed to decompress the posterior fossa. A few cases of regional phacomatosis with intracranial AVMs have been reported, but we could not find a report of the coexistence of intracranial multiple AVMs and hemangioma of the skull with associated varicose veins of the scalp and skeletal hypotrophy. We discuss on the etiology of the coexistence of regional phacomatosis and hemangioma and on the difference between our case and typical regional phacomatosis.