Serine proteinase dysfunction in keratinocyte of Papillon-Lefevre syndrome

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Papillon-Lefevre syndrome (PLS) is characterized by palmoplantar keratosis (PPK) and early-onset periodontitis, caused by deficiency of cathepsin C (CTSC) that activates many serine proteinases. The pathogenesis of PPK in PLS has not been determined. We confirmed that CTSC activates Kallikrein 8 (KLK8) in immortal human keratinocyte line ; HaCaT cell, by stimulating with recombinant CTSC. KLK8 is one of serine proteinase, and has been reported that plays a role in shedding the corneocytes. Furthermore, histopathological finding showed that topical TPA application caused significant hyperkeratosis in the epidermis of CTSC knockout mice, compared to wild type. These findings suggest that an absence of CTSC causes a serine proteinase dysfunction, leads to hyperkeratosis in the epidermi.