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Generalized hypertrichosis syndromes in Mexico
American Journal of Medical Genetics Seminars in Medical Genetics, Part C ( IF 2.8 ) Pub Date : 2020-12-07 , DOI: 10.1002/ajmg.c.31864
Thania Alejandra Aguayo-Orozco 1, 2 , Blanca Estela Ríos-González 3 , Anna Gabriela Castro-Martínez 4 , Andrea Virginia Ruiz-Ramírez 1, 2 , Luis E Figuera 1, 2
Affiliation  

Hypertrichosis is a rare condition characterized by excessive hair in areas of the body that are not predominantly androgen dependent. We can identify three main syndromes with congenital generalized hypertrichosis terminalis described in Mexico. The first is X‐linked generalized hypertrichosis, an ultra‐rare disease, with few cases reported to date. The second is Cantú syndrome, also known as hypertrichotic osteochondrodysplasia, which has a wide spectrum of clinical manifestations and is caused by pathogenic variants in ABCC9 and KCNJ8. The third is congenital hypertrichosis terminalis with or without gingival hyperplasia, which displays other features and involves several associated genes. The first two syndromes were described by the Mexican geneticist José María Cantú, and the concept of atavistic genes was invoked to explain the emergence of this outstanding trait. By understanding the genetic and pathophysiological basis of hypertrichosis, we can offer effective treatment to patients and help solve esthetic problems related to hair growth.

中文翻译:

墨西哥的全身性多毛症综合征

多毛症是一种罕见的疾病,其特征是身体不主要依赖雄激素的部位毛发过多。我们可以确定墨西哥描述的先天性全身性终末多毛症的三种主要综合征。第一种是 X 连锁全身性多毛症,这是一种极其罕见的疾病,迄今为止报道的病例很少。第二种是Cantú综合征,也称为多毛性骨软骨发育不良,临床表现广泛,由ABCC9KCNJ8的致病性变异引起. 三是先天性终末多毛症伴或不伴牙龈增生,表现出其他特征,涉及多个相关基因。墨西哥遗传学家何塞·玛丽亚·坎图 (José María Cantú) 描述了前两种综合征,并引用了返祖基因的概念来解释这种突出特征的出现。通过了解多毛症的遗传和病理生理基础,我们可以为患者提供有效的治疗,并帮助解决与毛发生长相关的美学问题。
更新日期:2020-12-30
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