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一名七岁儿童患少汗型外胚层发育不良的罕见病例。

A Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child.

作者信息

Shah Syed Asfand Yar, Hassan Wajih Ul, Sajjad Waseem, Shabbir Usama Bin, Raza Ali

机构信息

Internal Medicine, Nishtar Medical University, Multan, PAK.

出版信息

Cureus. 2022 Apr 20;14(4):e24300. doi: 10.7759/cureus.24300. eCollection 2022 Apr.

Abstract

Ectodermal dysplasias (EDs) encompass a large group of inherited disorders that affects two or more ectodermally derived structures. Hair, sweat glands, teeth, and nails are the most common ectodermal derivates affected. Other ectodermal structures that may be affected are ears, eyes, lips, and mucous membranes of the mouth or nose. During embryonic development, the ectoderm forms the outermost layer of the primary germ layers that give rise to the several structures that are commonly affected in ED. Therefore, ED manifests differently among patients, depending on the abnormality's combination and severity. Out of 150 distinctive syndromes, the most common syndromes within this group are hypohidrotic (defective sweat glands) and hidrotic (normal sweat glands). In addition, different types of inheritance patterns are found in ED; X-linked inheritance is by far the most common mode of inheritance. We present here the clinical case of hypohidrotic (anhidrotic) ED in a seven-year-old boy.

摘要

外胚层发育异常(EDs)是一大类遗传性疾病,影响两个或更多外胚层衍生结构。毛发、汗腺、牙齿和指甲是最常受影响的外胚层衍生物。其他可能受影响的外胚层结构包括耳朵、眼睛、嘴唇以及口腔或鼻腔的黏膜。在胚胎发育过程中,外胚层形成初级胚层的最外层,由此产生了ED中常见受影响的几种结构。因此,ED在患者中的表现各不相同,这取决于异常的组合和严重程度。在150种独特的综合征中,该组中最常见的综合征是少汗型(汗腺缺陷)和多汗型(汗腺正常)。此外,ED中发现了不同类型的遗传模式;X连锁遗传是迄今为止最常见的遗传方式。我们在此呈现一名7岁男孩的少汗型(无汗型)ED临床病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea30/9121332/6643d59a1737/cureus-0014-00000024300-i01.jpg

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