Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.
Four members in three generations of a family had Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring. Inheritance of the condition was consistent with an autosomal dominant mode and the manifestations are described to delineate further this rare phenotype.
Walpole
I R
IR
Department of Pediatrics, University of Western Australia, Perth.
Goldblatt
J
J
D000328:Adult; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006197:Hair / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree