PDF(Pubmed)
Abstract：
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands. It is a phenotypically heterogenous group of illnesses including anodontia with conical teeth, generalised spacing, reduced ability to sweat, very less hair growth, etc. The pattern of inheritance of HED varies from person to person depending on the type of ectodermal dysplasia (ED). The patterns include X-linked recessive, X-linked dominant, autosomal dominant, autosomal recessive, and spontaneous mutation. There is one such common type of ED more in female than male. It is an X-linked HED (XLHED), characterised by hypohidrosis, sparse hair, and teeth abnormalities. The other type can affect both male and female equally and may be inherited in different ways. The present case is a 21-year-old male who presented with hair, teeth, and sweat gland abnormalities.
摘要：
多汗性外胚层发育不良（HED）是一种遗传性疾病，涉及一组复杂的遗传性疾病。这种情况的特征是两个或多个外胚层衍生的解剖结构发育失败；例如，皮肤,头发,指甲,牙齿,和汗腺。它是一组表型异质性疾病，包括带有圆锥形牙齿的牙齿缺失症，广义间距，减少出汗能力，头发生长很少，等。HED的遗传模式因人而异，具体取决于外胚层发育不良（ED）的类型。这些模式包括X连锁隐性，X-连锁显性,常染色体显性,常染色体隐性遗传,和自发突变。女性比男性有一种常见的ED。它是一个X链接的HED（XLHED），以少汗症为特征，稀疏的头发，牙齿异常另一种类型可以平等地影响男性和女性，并且可能以不同的方式遗传。本案是一名21岁的男性，他有头发，牙齿,和汗腺异常。
