Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi).
We have reported on six personally examined patients with Rapp Hodgkin syndrome and four additional family members with documentation suggesting strongly that they also were affected with the disorder. Clinical manifestations observed in our patients include cleft lip/palate/uvula, ectodermal dysplasia, and hypospadias in males. The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and dysplastic nails. In addition, ptosis, atretric ear canals, and dysplastic eustachian orifices are suggested as other manifestations of the disorder.
Salinas
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College of Dental Medicine, Department of Diagnostic Science, Medical University of South Carolina, Charleston 29425.
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D000328:Adult; D000368:Aged; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005799:Genes, Dominant; D006197:Hair / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D008297:Male; D009262:Nails / Q000473:pathology; D010375:Pedigree; D013577:Syndrome