Abstract
Pachyonychia congenita (PC) is a rare keratinizing disorder characterized by thickened nails, painful and inflammatory palmoplantar keratoderma (PPK) and blistering for which no standard treatment is currently available. PC is caused by dominant mutations in keratin (KRT) 6A, 6B, 6C, 16 and 17 genes which are involved in wound healing and epidermal barrier formation. Previous reports pointed to mTOR activation and oxidative stress with dysfunctional NRF2 as contributors to PPK. However, the relationship between KRT mutations and pathogenesis of pain and PPK in PC, remains elusive.
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