Srivastava Himanshu, Singh Chintu K, Qureshi Sameera M R, Mastud Chaitra S
Department of Oral and Maxillofacial Pathology and Microbiology, Ph.D. Scholar Karnavati University, Gandhi Nagar, Gujarat, India.
Department of Oral and Maxillofacial Pathology and Microbiology, Aditya Dental College and Hospital, Beed, Maharashtra, India.
J Oral Maxillofac Pathol. 2023 Feb;27(Suppl 1):S75-S79. doi: 10.4103/jomfp.jomfp_72_21. Epub 2023 Feb 4.
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.
少汗型外胚层发育不良（HED）是一种遗传性疾病，涉及一组复杂的遗传病症。这种病症的特征是两个或更多外胚层衍生的解剖结构发育失败；例如，皮肤、毛发、指甲、牙齿和汗腺。它是一组表型异质性疾病，包括无牙症伴锥形牙、普遍牙间隙、出汗能力降低、毛发生长极少等。HED的遗传模式因人而异，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、常染色体隐性和自发突变。有一种常见的ED类型在女性中比男性中更常见。它是X连锁HED（XLHED），其特征为少汗、毛发稀疏和牙齿异常。另一种类型对男性和女性的影响相同，可能以不同方式遗传。本病例是一名21岁男性，表现出毛发、牙齿和汗腺异常。
