The Power of Molecular Genetics in Understanding Heritable Skin Disorders: Introduction to the Special Theme on Genodermatosis  

作　　者：Qiaoli Li Yong Yang Jouni Uitto 

机构地区：[1]Department of Dermatology and Cutaneous Biology,The Sidney Kimmel Medical College,and Jefferson Institute of Molecular Medicine,Thomas Jefferson University,Philadelphia,PA 19107,USA [2]Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs,Hospital for Skin Diseases(Institute of Dermatology),Chinese Academy of Medical Science and Peking Union Medical College,Nanjing,Jiangsu 210042,China

出　　处：《International Journal of Dermatology and Venereology》2021年第2期65-66,共2页国际皮肤性病学杂志（英文）

摘　　要：Among the over 7,000 heritable disorders,at least 1,000 of them have cutaneous manifestations.Some of these conditions are exclusively limited to the skin,thus being non-syndromic,while some of them are associated with a number of extracutaneous manifestations,that is,they are syndromic,with protean manifestations.These conditions,heritable skin diseases,display a tremendous collection of phenotypes as well as a broad spectrum of severity and the overall outcome.In most severe forms,some of these conditions are lethal at the early stages of life,while at the other end of the spectrum they may present with a relatively minor skin involvement primarily of cosmetic concern,with no effect on the longevity of the affected individuals.Considering the plethora of clinical manifestations,frequently with overlapping clinical features and complex classification schemes often riddled with eponyms,the heritable skin disorders frequently pose a diagnostic challenge for practicing dermatologists.

关 键 词：INVOLVEMENT SKIN primarily 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]