皮肤脱屑相关遗传病以及一种全新疾病的命名建议  

Advances in Monogenic Disorders of Skin Desquamation and Nomination Proposal of a New Entity

作　　者：巩卓青 汪慧君 林志淼 GONG Zhuoqing;WANG Huijun;LIN Zhimiao(Dermatology Hospital,Southern Medical University,Guangzhou 510091,China)

机构地区：[1]南方医科大学皮肤病医院,广东广州510091

出　　处：《中国皮肤性病学杂志》2024年第2期134-139,共6页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金面上项目(81872515,82073423,82003327)。

摘　　要：皮肤是人体和外界接触的第一道屏障。生理脱屑过程在维持表皮的结构完整和功能平衡中发挥重要作用,这一过程受到多种因素包括蛋白水解酶、蛋白酶抑制剂和环境等因素的影响。本文全面回顾了影响脱屑过程的单基因遗传病的临床特征和发病机制,同时阐述了本研究团队首次报道的KLK11基因突变导致的一种皮肤红斑角化伴脱屑障碍的单基因遗传病(简称MeDOC,Mendelian disorders of cornification)及发病机制,提出其诊断标准,为脱屑机制的研究和相关疾病的治疗提供新的视角,并建议其命名为“朱学骏型红斑角皮病(Zhu-type erythro-keratodermia,ZEK)”。Skin is the first barrier that comes into contact with the external world.Skin desquamation plays an important role in skin integrity and homeostasis,and various factors are considered to affect this process,such as proteases,protease inhibitors and environmental factors.The paper comprehensively reviewed the pathogenesis and clinical features of monogenic disorders that disturb the desquamation.Our research team first reported a new Mendelian disorder of cornification(MeDOC)characterized by severe erythroderma or erythrokeratoderma,illustrated the pathogenesis,and proposed the diagnostic criteria of the disorder,which offer a fresh perspective on the desquamation mechanism and treatment of associated diseases.Here we recommend naming this new MeDOC“Zhu⁃Type erythrokeratodermia,ZEK”.

关 键 词：皮肤脱屑 单基因遗传病 KLK11 MeDOC 朱学骏型红斑角皮病 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]