Abstract
Pachyonychia congenita (PC) is a rare keratinizing disorder characterized by painful palmoplantar keratoderma (PPK), thickened nails and blistering for which there are no standard current treatment. PC is caused by dominant mutations in keratin 6A, 6B, 6C, 16 and 17 genes involved in stress, wound healing and epidermal barrier formation. Mechanisms leading to pain and PPK in PC remain elusive. To gain further insight into PC pathogenesis, we studied the human epidermal growth factor receptor (HER) pathway and transient receptor potential vanilloid-3 (TRPV3) expression in PC calluses in 3 patients.
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