Combined phakomatoses: a case report of Sturge-Weber and Wyburn-Mason syndrome occurring in the same individual.
A patient exhibiting ocular and systemic manifestations of both Sturge-Weber and Wyburn-Mason syndrome is described. The ocular, dermatologic, and neurological findings are detailed. The simultaneous occurrence of more than one phakomatosis is rare, but several combinations have been described in the literature. This appears to be the first report of this particular combination of phakomatoses.
D000293:Adolescent; D000798:Angiomatosis / Q000150:complications*; D003228:Conjunctiva / Q000002:abnormalities; D005153:Facial Neoplasms / Q000150:complications*; D005260:Female; D006801:Humans; D009778:Occipital Lobe / Q000098:blood supply; D010296:Parietal Lobe / Q000098:blood supply; D012171:Retinal Vessels / Q000002:abnormalities*; D013341:Sturge-Weber Syndrome / Q000150:complications*; D013577:Syndrome