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Statements

Subject Item
dbr:Clouston's_hidrotic_ectodermal_dysplasia
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rdfs:label
Clouston's hidrotic ectodermal dysplasia Zespół Cloustona Clouston-Syndrom
rdfs:comment
Clouston's hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale, often associated with patchy alopecia. Zespół Cloustona, in. dysplazja ektodermalna z zachowaną czynnością gruczołów potowych (ang. Clouston’s hidrotic ectodermal dysplasia, alopecia congenita with keratosis palmoplantaris, Clouston syndrome, Fischer–Jacobsen–Clouston syndrome, Waldeyer-Fisher syndrome, hidrotic ectodermal dysplasia, keratosis palmaris with drumstick fingers, palmoplantar keratoderma and clubbing) – genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie dominująco. Charakteryzuje się triadą objawów, na którą składają się: dysplazja paznokci, utrata włosów oraz rogowiec dłoni i stóp, bez objawów niepełnosprawności intelektualnej. Das Clouston-Syndrom oder Hidrotische ektodermale Dysplasie, auch Ektodermale Dysplasie II ist eine seltene angeborene Erkrankung mit der Symptomentrias Nageldystrophie, Alopezie (Haarausfall) und vermehrte Hornhautbildung (Hyperkeratose) an den Handflächen. Die Bezeichnung bezieht sich auf den Erstbeschrieb im Jahre 1929 durch den kanadischen Arzt H. R. Clouston.
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Alopecia congenita with keratosis palmoplantaris, Clouston syndrome, Fischer–Jacobsen–Clouston syndrome, Hidrotic ectodermal dysplasia, Keratosis palmaris with drumstick fingers, Palmoplantar keratoderma and clubbing
dbo:abstract
Zespół Cloustona, in. dysplazja ektodermalna z zachowaną czynnością gruczołów potowych (ang. Clouston’s hidrotic ectodermal dysplasia, alopecia congenita with keratosis palmoplantaris, Clouston syndrome, Fischer–Jacobsen–Clouston syndrome, Waldeyer-Fisher syndrome, hidrotic ectodermal dysplasia, keratosis palmaris with drumstick fingers, palmoplantar keratoderma and clubbing) – genetycznie uwarunkowany zespół wad wrodzonych, dziedziczony autosomalnie dominująco. Charakteryzuje się triadą objawów, na którą składają się: dysplazja paznokci, utrata włosów oraz rogowiec dłoni i stóp, bez objawów niepełnosprawności intelektualnej. Zespół został po raz pierwszy opisany w 1929 przez kanadyjskiego lekarza . Clouston's hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair that is wiry, brittle, and pale, often associated with patchy alopecia. Das Clouston-Syndrom oder Hidrotische ektodermale Dysplasie, auch Ektodermale Dysplasie II ist eine seltene angeborene Erkrankung mit der Symptomentrias Nageldystrophie, Alopezie (Haarausfall) und vermehrte Hornhautbildung (Hyperkeratose) an den Handflächen. Die Bezeichnung bezieht sich auf den Erstbeschrieb im Jahre 1929 durch den kanadischen Arzt H. R. Clouston.
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