Chee Siew-Yin, Wanga Chung-Hsing, Lina Wei-De, Tsaia Fuu-Jen
Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan.
College of Medicine, China Medical University, 404 Taichung, Taiwan ; Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan.
Biomedicine (Taipei). 2014;4(4):27. doi: 10.7603/s40681-014-0027-9. Epub 2014 Nov 26.
Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.
外胚层发育不良（ED）综合征是一大类具有高度异质性的遗传性疾病，其特征是源自胚胎外胚层的两个或更多组织在发育过程中出现原发性缺陷。主要受累组织为皮肤及其附属器（包括毛囊、汗腺、皮脂腺、指甲）和牙齿。临床特征包括头发稀疏、牙齿异常或缺失，以及因汗腺缺乏而无汗。本文介绍了一例外胚层发育不良的病例报告。
