[Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?]

J Genet Hum. 1983 Dec;31(4):279-93.
[Article in French]

Abstract

The authors report three cases of anidrotic ectodermal dysplasia with an X-linked form. Two cases are sporadic forms, followed up during ten years; the third case is a familial form followed-up through six generations. With their personal cases, the authors insist on the repercussions in the everyday life; they report the signs which must search for an heterozygosis among the females of this families: hypoidrosis, hypodontia, hair shaft abnormalities under polarized light, special look of the face of those females who are alike sometimes wonderfully.

Publication types

  • Case Reports

MeSH terms

  • Anodontia / diagnosis
  • Anodontia / genetics
  • Anodontia / pathology
  • Child
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology
  • Genetic Carrier Screening
  • Hair / abnormalities*
  • Hair / pathology
  • Heterozygote*
  • Humans
  • Hypohidrosis / diagnosis
  • Hypohidrosis / genetics*
  • Hypohidrosis / pathology
  • Infant
  • Male
  • Pedigree