长岛型掌跖角化症的研究进展

长岛型掌跖角化病(Nagashima-type palmoplantar keratosis,NPPK)是亚洲人群中最常见的掌跖角化病,2013年Kubo等学者通过全外显子组测序发现其为丝氨酸蛋白酶抑制剂B7(SERPINB7)基因纯合或复合杂合突变所致,目前发现15种不同的致病性突变。NPPK的典型临床特征表现为超出掌跖皮肤掌缘的角化过度。NPPK远期预后良好,暂无标准化治疗方案,目前研究发现庆大霉素可以有效缓解NPPK患者皮肤角化过度和异味,然而仍需更多的临床研究去验证。

Update of Nagashima-type palmoplantar keratosis's

Nagashima-Type palmoplantar keratosis (NPPK) is the most common palmoplantar keratosis in Asian population. In 2013, Kubo found that it was caused by homozygous or complex heterozygous mutations in serine protease inhibitor B7 (SERPINB7) by whole exome sequencing, and 15 different pathogenic mutations have been found at present. The typical clinical feature of NPPK is hyperkeratosis. NPPK has a good long-term prognosis, but there is still no standardized treatment. Current studies have found that gentamicin can effectively relieve skin hyperkeratosis and smell in patients with NPPK, but more clinical studies are needed to verify.