Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote.

  • 1 January 1977
    • journal article
    • case report
    • Vol. 13, 95-100
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.

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