残毁性掌跖角皮病合并口周皮肤病的研究进展  

Research Development in Patients with Olmsted Syndrome

作　　者：魏皓然 陶娟[1] WEI Haoran;TAO Juan(Department of Dermatology,Union Hospital of Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430000,China)

机构地区：[1]华中科技大学同济医学院附属协和医院皮肤科,武汉430000

出　　处：《罕见病研究》2023年第2期164-169,共6页Journal of Rare Diseases

摘　　要：残毁性掌跖角皮病合并口周皮肤病(OS)是一种极为罕见的遗传性皮肤病,以掌跖部位及口周皮肤的重度角化为特征。本病的诊断主要依赖于临床表现,同时需要排除其他皮肤角化过度相关的疾病。近年来关于OS病因的分子遗传学研究有许多进展,明确发生特定突变后可致病的基因包括TRPV3、MBTPS2/S2P及PERP。因此基因检测也成为诊断本病的重要手段之一。OS治疗困难,传统治疗采用外用药物软化皮肤角质层,或口服阿维A。对于严重限制活动的缩窄环,也可采用手术切除,但易复发;精准治疗采用小分子药物厄洛替尼和西罗莫司治疗,可显著改善掌趾角化。本文总结了OS的病因及发病机制、临床表现、诊断、治疗和及预后展望,以期提高临床医师对OS的认识。Olmsted syndrome(OS)is an extremely rare hereditary skin disease,that is usually characterized by mutilating palmoplantar keratoderma(PPK)and periorificial keratotic plaques.The diagnosis of this disease de⁃pends primarily on the clinical presentation and OS has to be differentiated from other disorders associated with hy⁃perkeratosis.In recent years,there have been many advances in molecular genetic research on the pathogenesis of the disease.The genes that can cause disease after specific mutations include TRPV3,MBTPS2/S2P and PERP.There⁃fore,genetic testing has become one of the important methods for the diagnosis of this disease.OS treatment is diffi⁃cult,and conventional therapy uses topical drugs to soften the cuticle of the skin,or oral Avi A.Excision of palmo⁃plantar keratosis may also be used for constricting rings that severely restrict movement,but they often reoccur after initial improvement.In terms of precision treatment,researchers have tried the small molecule drugs erlotinib and sirolimus and have achieved some results.This paper summarizes the etiology,pathogenesis,clinical manifestations,diagnosis,treatment and prognosis of OS,in order to improve the clinicans􀆳awareness of OS.

关 键 词：OLMSTED综合征 TRPV3基因 遗传模式 精准治疗 

分 类 号：R758[医药卫生—皮肤病学与性病学]