Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17).
Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of 5 keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17) featuring painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis, and often oral leukokeratosis.
Finally, this PC-associated substitution as well as more frequent caries-associated SNPs, found in two of the KRT6 genes, that result in rs28538343" genes_norm="286887;3854;3868">p.Ser143Asn substitution (rs28538343 in KRT6B and rs151117600 in KRT6C), alter the assembly of K6 filaments in ameloblast-like cells.
Twenty years have elapsed since keratin mutations were linked to cutaneous genodermatoses, and we now know that they cause 40 different genetic disorders.In this issue, Wilson et al. have identified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one family has nail involvement.