Suppr超能文献

少汗型外胚层发育不良的异常身体特征及中暑表现

Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.

作者信息

Prasun Pankaj, Karmarkar Swati A, Agarwal Ajay, W Stockton David

机构信息

Children's Hospital of Michigan Department of Radiology, Detroit Medical Center, Detroit, Michigan, USA.

出版信息

Clin Dysmorphol. 2012 Jan;21(1):24-26. doi: 10.1097/MCD.0b013e32834cef61.

Abstract

Hypohidrotic/ anhidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (decreased tooth development). Sweating is either absent or greatly deficient leading to an increased risk for hyperthermia. This is a relatively common genetic condition; it is estimated that 1 in approximately 5000–10 000 newborns has HED (Wright et al., 2009). Here, we report an infant with HED who presented with a heat stroke-like condition in the extreme winter months of Michigan.

摘要

少汗型/无汗型外胚层发育不良(HED)的特征为毛发稀疏(头皮和身体毛发稀少)、少汗(出汗能力降低)和牙发育不全(牙齿发育减少)。出汗要么完全没有,要么严重不足,导致体温过高的风险增加。这是一种相对常见的遗传疾病;据估计,每5000 - 10000名新生儿中约有1人患有HED(Wright等人,2009年)。在此,我们报告一名患有HED的婴儿,他在密歇根州的隆冬时节出现了类似中暑的症状。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验