Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.Am J Med Genet. 1997 Nov 12; 72(4):462-7.AJ
We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were examined by one of the authors. Smooth, dry, thin skin is seen in most affected individuals. Nearly all have fine, slow-growing scalp and body hair and all have sparse eyebrows and short eyelashes. Nearly all show a decrease in sweating, with some only sweating under the arms and/or on the palms and soles. All affected individuals lacked some deciduous teeth and some permanent teeth. Some teeth are abnormally shaped. Nail abnormalities are more variable and may occur more frequently with increasing age. No other abnormalities are seen in affected individuals in this family. We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. ; however, it appears to represent a disorder that has not been described previously.