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[低汗型外胚层发育不良作为一名幼儿反复高热的病因]

[Hypohidrotic ectodermal dysplasia as the cause of recurrent hyperthermia in a young infant].

作者信息

Dittmer A, Erler T, Gurski A, Müller P

机构信息

Kinderklinik, Carl-Thiem-Klinikums Cottbus.

出版信息

Kinderarztl Prax. 1992 Nov;60(8):239-42.

PMID:1469827
Abstract

Fever--the most frequent symptom of diseases in children--points diagnostically to an infection. We report on a child who presented with recurrent high fever of unknown origin. Infectious diseases could be excluded. During a general medical checkup the results of repeated pilocarpine iontophoresis attracted attention by the minimal secretion of sweat. The diagnosis of hypohydrotic ectodermal dysplasia could be confirmed by dermal biopsy since all integumentary appendages were missing. Only 300 cases of this rare hereditary dysplasia can be found in the literature.

摘要

发热——儿童疾病最常见的症状——在诊断上指向感染。我们报告了一名出现不明原因反复高热的儿童。已排除传染病。在一次全面体检中,反复进行的毛果芸香碱离子导入法检查结果因出汗极少而引起关注。皮肤活检可确诊少汗型外胚层发育不良,因为所有皮肤附属器均缺失。文献中仅能找到300例这种罕见的遗传性发育不良病例。

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