Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote.
Sweat pores on the epidermal ridges are hypoplastic and reduced in number in three sisters affected with autosomal recessive hypohidrotic dysplasia. The heterozygote state is expressed by a reduced number of qualitatively normal sweat pores (14.07 +/- 8.59 as compared to 22.27 +/- 2.33 in controls). Clinical and genetic considerations suggest that this may be a distinct type that has to be differentiated from other autosomal recessive hypohidrotic ectodermal dysplasias. Heterozygote manifestation may contribute to delineate this groups of disorders further.
D000293:Adolescent; D000328:Adult; D000848:Anodontia / Q000235:genetics; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D010375:Pedigree