Department of Orthopaedics, West China Hospital of Sichuan University, No. 37 Guoxue Alley, Wuhou District, Chengdu, 610041 Sichuan, China.
Department of Dermatology, Shanghai Ninth Hospital Affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai 200011, China.
Biomed Res Int. 2021 Jan 27;2021:8841994. doi: 10.1155/2021/8841994. eCollection 2021.
Nagashima-type palmoplantar keratosis (NPPK) is the most prevalent palmoplantar keratoderma (PPK) in East Asia. Homozygous or compound heterozygous loss-of-function mutations in serpin peptidase inhibitor, clade B (ovalbumin), and member 70 (SERPINB7), which encodes members of the serine protease inhibitor superfamily, have been identified as the cause of NPPK. Clinical manifestations of NPPK include well-demarcated erythema, mild to moderate hyperkeratosis on the whole palm, and sole with transgrediens, extending to the dorsal surfaces of the hands and feet, inner wrists, ankles, and the Achilles tendon areas. In this study, we perform a review of relevant clinical cases aimed at elucidating the clinical characteristics, genetic characterization, differential diagnoses, and clinical management of NPPK. A better understanding of the clinical characteristics and pathogenic gene characterization of NPPK will enhance the diagnosis of NPPK, identify related diseases, and inform on the precise therapy and prognosis. Moreover, it will promote the awareness of NPPK in non-Asian regions.
Nagashima 型掌跖角化病（NPPK）是东亚最常见的掌跖角化病（PPK）。丝氨酸蛋白酶抑制剂、B 族（卵清蛋白）和成员 70（SERPINB7）的同源或复合杂合功能丧失突变已被确定为 NPPK 的原因，该基因编码丝氨酸蛋白酶抑制剂超家族的成员。NPPK 的临床表现包括界限清楚的红斑，整个手掌轻度至中度过度角化，足底呈移行性角化，延伸到手和脚的背面、内腕、脚踝和跟腱区域。在这项研究中，我们回顾了相关的临床病例，旨在阐明 NPPK 的临床特征、遗传特征、鉴别诊断和临床管理。更好地了解 NPPK 的临床特征和致病基因特征将有助于 NPPK 的诊断，识别相关疾病，并为精确的治疗和预后提供信息。此外，它将提高非亚洲地区对 NPPK 的认识。
