Brief clinical report: new, autosomal dominant form of ectodermal dysplasia.
We describe a 15-year-old boy with an ectodermal dysplasia syndrome (EDS) associated with unilateral adrenal cyst. The EDS combination of aplasia cutis verticis, hypohidrosis, nipple/breast hypoplasia, onychodysplasia, and delayed dental eruption with minor tooth anomalies has not been previously reported as an autosomal dominant trait. The association with adrenal cyst may alert other units to review their experience to determine if such combination is more than a coincidence.
D000293:Adolescent; D000307:Adrenal Gland Diseases / Q000235:genetics; D000328:Adult; D003560:Cysts / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009264:Nails, Malformed / Q000235:genetics; D009558:Nipples / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000235:genetics