Lambert D, Nivelon-chevalier A, Nivelon J L, Chapus J L
Ann Dermatol Venereol. 1977 Apr;104(4):298-303.
The E. A. D. is a genodermatosis characterised by absence or important diminuation of sweat glands. The study of 3 children of different families allows us to identify the diagnostic elements: typical facial signs, anhidrosis, rarity of teeth "buds", abnormalities of dermatoglyphes. This diagnosis must be established early, to protect the newborn from accidents of overheating caused by perspiration insufficiency. The sweat glands are not affected alone: exocrine glands also, explaining the fragility of the upper respiratory tract in such patients. The teeth abnormalities are important and need replacement by false teeth, carefully done at an early date and continued later on. Genetic investigation is indispensable to discover women who carry the disease, with a high risk of transmission to their children.
先天性无汗性外胚层发育不良是一种以汗腺缺失或显著减少为特征的遗传性皮肤病。对来自不同家庭的3名儿童进行的研究使我们能够确定诊断要素:典型的面部体征、无汗、牙胚稀少、皮纹异常。必须尽早做出诊断,以保护新生儿免受因出汗不足导致的过热意外。汗腺并非单独受到影响:外分泌腺也会受影响,这解释了此类患者上呼吸道的脆弱性。牙齿异常很严重,需要尽早仔细地安装假牙,并持续后续治疗。基因检测对于发现携带该疾病且有高遗传风险的女性必不可少。