[Anhidrotic ectodermal dysplasia (apropos of 3 families). Abnormal hair, a sign of heterozygosity?].
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.
D000848:Anodontia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002648:Child; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006580:Genetic Carrier Screening; D006197:Hair / Q000002:abnormalities* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007007:Hypohidrosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008297:Male; D010375:Pedigree
La dysplasie ectodermique anidrotique (a propos de trois familles). Les cheveux anormaux, signe d'hétérozygotie?