title: Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote.
abstract: 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.
mesh_terms: 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