A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family.
We encountered two family members with a previously undescribed pure ectodermal dysplasia. The propositus exhibited hypotrichosis, hypodontia, focal linear dermal hypoplasia on the tip of her nose, irregular hyperpigmentation on her back, bilateral amastia and athelia, and mild nerve hearing loss. Her mother displayed similar characteristics, except for present, although hypoplastic, areolae and nipples. Both mother and daughter appeared to be clinically euhidrotic. Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected. The pattern of inheritance appeared to be autosomal-dominant, with variable penetrance and expressivity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000505:Alopecia / Q000235:genetics*; D001940:Breast / Q000002:abnormalities; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D008875:Middle Aged; D009264:Nails, Malformed; D010375:Pedigree; D014071:Tooth Abnormalities / Q000235:genetics*