Proteus syndrome: an expanded phenotype.
We report on 11 new cases of Proteus syndrome to illustrate the broad range of the phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic disorder are hemihypertrophy, macrodactyly, exostoses, scoliosis, cavernous hemangiomas, lipomas, linear sebaceous nevi, and deeply rugated soles of the feet. Intelligence is usually normal. The differential diagnosis includes Klippel-Trenaunay-Weber and partial lipodystrophy syndromes.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005096:Exostoses / Q000235:genetics; D005121:Extremities / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics; D006392:Hemangioma, Cavernous / Q000235:genetics; D006801:Humans; D008067:Lipoma / Q000235:genetics; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis*; D009506:Nevus / Q000235:genetics; D010641:Phenotype; D012600:Scoliosis / Q000235:genetics