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Molecular insights into nagashima-type palmoplantar keratoderma: SERPINB7 mutation spectrum and mechanistic perspectives
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DOI：10.3389/fmolb.2026.1796488.png)
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Abstract
En 中文
Nagashima-type palmoplantar keratoderma (NPPK) is a common inherited palmoplantar keratoderma predominantly affecting East Asian populations and caused by biallelic loss-of-function variants in the SERPINB7 gene. Clinically; NPPK is characterized by diffuse; non-progressive hyperkeratoderma of the palms and soles with erythema extending beyond the palmoplantar margins; frequently accompanied by hyperhidrosis and malodor. Although the disease course is generally benign; these features may lead to a considerable psychosocial burden. Advances in next-generation sequencing have expanded the mutational spectrum of SERPINB7 and clarified founder effects in different populations; while mechanistic studies have highlighted the essential role of SERPINB7 in maintaining epidermal protease–antiprotease balance and barrier homeostasis. These insights have enabled the development of mutation-targeted therapeutic approaches; most notably topical gentamicin-induced readthrough therapy for nonsense mutations. This review summarizes current knowledge and recent advances in the epidemiology; genetics; pathogenesis; clinical features; and management of NPPK; with particular emphasis on emerging precision treatment strategies.
Keywords:
gentamicin
SERPINB7
LGMN
founder mutation
NPPK
Journal
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