Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.
An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp-Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.
D000328:Adult; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006197:Hair / Q000473:pathology; D006201:Hair Diseases / Q000235:genetics* / Q000473:pathology; D006801:Humans; D013577:Syndrome