Gene expression signatures in the skin of focal palmoplantar keratoderma (FPPK) patients

We identified a number of affected pathways through transcriptome analysis on the skin biopsy samples of the FPPK patients. Our findings suggest that TRPV3 dysfunction may increase apoptotic activity, inhibit keratinocyte differentiation and disturb the intricate balance between proliferation and differentiation state of keratinocytes in the skin. From a 37-year-old Chinese male (II-7) and his 12-year-old son (III-7), biopsies from unaffected and affected skin tissues were obtained and their transcriptome profiles were analyzed in order to identify molecular changes related with the pathology of FPPK.