新生儿先天性外胚层发育不良一例

One case of neonatal congenital ectodermal dysplasia

29天男性新生患儿,出现皮肤干燥、全身膜样脱屑、毛发稀疏色黄、无汗,反复发热。皮肤活检显示真皮内皮肤附属器消失,基因检测显示EDA基因突变,诊断为少汗型外胚层发育不良。该病是一种罕见的遗传性疾病,可影响牙齿、头发、指甲和汗腺的发育或功能。少汗型患儿可因排汗异常而导致体温升高。因此,对于新生儿有不明原因的反复发热,同时具有特殊外貌者,排除感染等引起发热的因素后,应考虑先天性外胚层发育不良的可能,及时完善相关检查,明确诊断,避免延误病情。

A 29 days old neonate with dry skin, membrane-like body molt, sparse yellow hair, hypohidrosis and recurrent fever, was diagnosed as hypohidrotic ectodermal dysplasia （HED）. The skin biopsy showed no skin adnexal dermis. The gene detection showed a missense mutation （c.463C〉T） in the ectodysplasin-A （EDA） gene. Ectodermal dysplasia is a rare hereditary disorder affecting the development or function of the teeth, hair, nails and sweat glands. HED patient showed heat intolerance and hyperthermia because of abnormal perspiration. If one neonate with characteristic physiognomy endures chronic fever, and infection excluded, we should pay attention to execute relational examinations to obtain early diagnosis.