遗传性皮肤病的新发现。

New findings in genodermatoses.

机构信息

Department of Dermatology, University of Missouri, 1 Hospital Drive, Room MA111D, Columbia, MO 65212, USA.

出版信息

Dermatol Clin. 2013 Apr;31(2):303-15. doi: 10.1016/j.det.2012.12.007.

DOI:10.1016/j.det.2012.12.007

Abstract

New technologies are accelerating the pace at which genetic defects leading to inherited skin disease are elucidated. Translation of these genetic discoveries into new therapies for patients with inherited skin diseases has not been as rapid but the pace is now accelerating. This article summarizes recent findings in genetic skin diseases, the scope of advances being made, the role of new DNA analysis technologies in these discoveries, as well as highlighting some examples of how an understanding of the genetic cause of inherited skin diseases can lead to therapeutic interventions for patients.

摘要

新技术正在加速阐明导致遗传性皮肤疾病的遗传缺陷。将这些遗传发现转化为遗传性皮肤疾病患者的新疗法的速度并没有那么快，但现在步伐正在加快。本文总结了遗传性皮肤疾病的最新发现、取得的进展范围、新的 DNA 分析技术在这些发现中的作用，并强调了一些例子，说明对遗传性皮肤疾病遗传原因的理解如何为患者的治疗干预提供依据。