Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients

Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis the palms and soles, occasional additional manifestations in other tissues. Mutations at least 69 genes have been implicated PPK, but further novel candidate mutations are still to be found. Objectives To identify underlying PPK cohort 64 patients. Methods DNA 48 patients was analysed on custom-designed in-house panel for 35 genes, 16 were investigated by diagnostic genetic laboratory either whole-exome sequencing, gene panels or targeted single-gene sequencing. Results Of patients, 32 had diffuse (50%), 19 focal (30%) 13 punctate (20%) PPK. None striate Pathogenic altogether five identified 31 (48%) majority (22/31) them, 11 mutation AQP5, SERPINB7, four KRT9 two SLURP1. AAGAB found nine New AAGAB. No pathogenic detected Variants uncertain significance (VUS) PPK-associated observed 21 that might explain their suggestive variants 12 Conclusions Diffuse most common (50%) not observed. We 48% our mainly genes: AAGAB, KRT9, SERPINB7