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

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.