Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
L HarjamaV KarvonenK KettunenO ElomaaE EinarsdottirH HeikkiläS KivirikkoP EllonenJ SaarelaA RankiJ KereK Hannula-JouppiPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2021)
Diffuse PPK was the most common (50%) and striate PPK was not observed. We identified pathogenic mutations in 48% of our PPK patients, mainly in five genes: AQP5, AAGAB, KRT9, SERPINB7 and SLURP1.