长岛型掌跖角化病的研究进展

Research Progress of Nagashima-type Palmoplantar Keratoderma

长岛型掌跖角化病(Nagashima-type palmoplantar keratoderma,NPPK),是东亚人群中常见的弥漫性非表皮松解性掌跖角化病,遗传方式为常染色体隐性遗传。目前已知NPPK由丝氨酸蛋白酶抑制剂B7(serine proteinase inhibitor B7,SERPINB7)基因的功能缺失所引起,但具体发病机制尚未明确。临床表现以掌跖部位边界清楚的红斑及轻至中度的角化过度为主要特征。目前针对NPPK的标准化疗法尚未制定。最近有研究表明庆大霉素可诱导无义突变进行通读,因此可作为NPPK的潜在性治疗选择,但庆大霉素对该病的具体机制及标准治疗方法仍需深入研究。

Nagashima-type palmoplantarkeratoderma(NPPK),an autosomal recessive form of diffuse non-epidermolytic palmoplantar keratosis,is a common type of the palmoplantar keratoderma in East Asia.NPPK is caused by loss-of-function mutations in serine proteinase inhibitor B7(SERPINB7),but the pathogenesis of it has not been established.Clinical manifestations of NPPK are mainly characterized by well-demarcated erythema,mild to moderate hyperkeratosis on the whole palms and soles.A standardized treatment for NPPK has not yet been developed,but current studies reveal that gentamicin can induce the readthrough of nonsense mutations.Although gentamicin may be a choice of the potential treatment for patients with NPPK,further investigations are needed to clarify its specific mechanism and standardized treatment.