Pachyonychia congenita: an overview

Pachyonychia congenital (PC) is an autosomal dominant skin disorder that is caused by mutations affecting a group of keratins found in specific regions of the epidermis. Adults typically suffer from painful plantar keratoderma. This article reviews the clinical presentation, genetic diagnosis, pathogenesis, as well as current and future treatment options for PC. Pachyonychia congenita (PC) is a rare skin disorder caused by mutations affecting a group of keratins found in specific regions of the epidermis. The signs and symptoms of PC generally appear within the first few months of life, although a rare variation-PC tarda-appears in adolescence or early childhood. Although originally classified as a nail dystrophy, its major impact on adult patients is from painful plantar keratoderma.