Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

@article{Covello1998MutationsIK,
  title={Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.},
  author={Seana P Covello and Alan D Irvine and K E Mckenna and Colin S. Munro and Norman Cumming Nevin and Frances J. D. Smith and Jouni Uitto and W H Irwin McLean},
  journal={The Journal of investigative dermatology},
  year={1998},
  volume={111 6},
  pages={1207-9}
}
Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant disorder in which hyperkeratosis confined to the palms and soles is characterized histologically by cytolysis of suprabasal keratinocytes. Mutations in the keratin 9 gene (KRT9), a type 1 keratin expressed exclusively in the suprabasal keratinocytes of palmoplantar epidermis, have previously been demonstrated in this disorder. Here, we have studied four Northern Irish kindreds presenting with EPPK. By direct… CONTINUE READING