长岛型掌跖角化症的发病机制与治疗进展  

Advances in the pathogenesis and treatment of Nagashima-type palmoplantar keratosis

作　　者：李岢贞 卢安童 钟伟龙[1,2,3] 于波 LI Kezhen;LU Antong;ZHONG Weilong;YU Bo(Peking University Shenzhen Hospital,Shenzhen 518036,China;Shenzhen Key Laboratory for Translational Medicine of Dermatology,Biomedical Research Institute,Shenzhen Peking University-the Hong Kong University of Science and Technology Medical Center,Shenzhen 518036,China;Institute of Dermatology,Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center,Shenzhen 518036,China;Shenzhen University Medical School,Shenzhen 518036,China;Shantou University Medical College,Shantou 515041,China)

机构地区：[1]北京大学深圳医院,广东深圳518036 [2]深圳皮肤疾病转化医学重点实验室,广东深圳518036 [3]深圳北京大学香港科技大学皮肤病研究所,广东深圳518036 [4]深圳大学临床医学部,广东深圳518036 [5]汕头大学临床医学部,广东汕头515041

出　　处：《皮肤性病诊疗学杂志》2024年第10期721-726,F0003,共7页Journal of Diagnosis and Therapy on Dermato-venereology

基　　金：国家自然科学基金(82203900);广东省基础与应用基础研究基金联合基金(2021A1515111009);深圳市医学重点学科建设经费(SZXK040);深圳三名工程经费(SZSM202311029);深圳皮肤疾病分子诊断公共服务平台(含提升)。

摘　　要：长岛型掌跖角化症(NPPK)是一种由SERPINB7基因突变导致的常染色体隐性遗传性掌跖角化症,具体发病机制尚不明确,可能与SERPINB7结构和功能异常、环境因素、屏障受损及炎症反应相关。目前NPPK缺乏特异性、标准化治疗,临床上以局部治疗为主,严重者可联合系统药物或手术方式对症处理;针对病因的靶向治疗药物庆大霉素显示出一定的潜力,但仍需更多的临床研究来验证其疗效和安全性。本综述旨在总结NPPK致病基因、发病机制和治疗策略。Nagashima-type palmoplantar keratosis(NPPK)is a relatively common autosomal recessive dermatosis characterized by well-defined diffuse erythema and non-destructive hyperkeratosis on the palmoplantar areas,with swelling and whitening when exposed to water.The pathogenesis of NPPK can be attributable to altered structure and function of SERPINB7,environmental factors,barrier dysfunction and inflammatory response.There is no specific and standardized therapy for this disorder.Topical treatment is primary therapy although systemic drugs or surgery can be used for severe cases.Gentamicin,a targeted therapy for the disease,has shown some potential,but more clinical studies are still needed to verify its efficacy and safety.The aim of this review is to summarize the causative gene,pathogenesis and therapeutic strategies of NPPK.

关 键 词：长岛型掌跖角化症 SERPINB7 基因突变 发病机制 庆大霉素 

分 类 号：R758.53[医药卫生—皮肤病学与性病学]