Ontology highlight
ABSTRACT:
SUBMITTER: Smith FJD
PROVIDER: S-EPMC7116359 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Smith F J D FJD Kreuser-Genis I M IM Jury C S CS Wilson N J NJ Terron-Kwiatowski A A Zamiri M M
Clinical and experimental dermatology 20181004 5
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Causative mutations in KRT1 and KRT10 have been descr ...[more]