Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.
Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro-orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post-operative complications.
D000328:Adult; D000353:Africa, Southern; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000473:pathology; D005260:Female; D005835:Genitalia / Q000473:pathology; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009141:Musculoskeletal System / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis*; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics; D012886:Skull / Q000473:pathology