Autosomal recessive ectodermal dysplasia.
Seven cases of a peculiar autosomal recessive ectodermal dysplasia as a distinct nosologic entity are presented. The main symptoms of this rare, not fully delineated syndrome, are hypohidrosis, xeroderma, hypotrichosis, dystrophy of the teeth, benign acanthosis nigricans, and furrowed tongue. Other symptoms can include mental retardation, nail dystrophy, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma), and palmoplantar keratosis.
Lelis
J
J
University of Vilnius, Lithuania.
D000293:Adolescent; D000328:Adult; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged