[A case of anhidrotic ectodermal dysplasia diagnosed during investigation of asthmatic attack].
A 24-year old man was hospitalized because of a severe asthmatic attack in August 2003. The asthma attack was well controlled by mechanical ventilation, intravenous hydrocortisone and inhaled beta2-agonist. Physical examination revealed sparse hair, reduced sweating and hypodontia. We also confirmed the absence of sweat glands in a biopsied skin specimen. The diagnosis based on these findings was anhidrotic ectodermal dysplasia A mutation in the EDA (ectodysplasin-A) gene which led to an X-linked anhidrotic ectodermal dysplasia was found, and the same genetic mutation was detected in the patient's mother.
Hara
Josuke
J
Respiratory Medicine, Cellular Transplantation Biology, Kanazawa University Graduate School of Medical Science.
Nishi
Koichi
K
Herai
Yoriko
Y
Mizuguchi
Masayuki
M
Myou
Shigeharu
S
Fujimura
Masaki
M
D000328:Adult; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D053331:Ectodysplasins; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D013224:Status Asthmaticus / Q000209:etiology* / Q000628:therapy
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins