Pachyonychia congenita type I presenting with subtle nail changes

Pediatr Dermatol. 2009 Jul-Aug;26(4):492-3. doi: 10.1111/j.1525-1470.2009.00970.x.

Abstract

Pachyonychia congenita type I is an autosomal dominant disorder where nail abnormalities are a constant feature and develop during childhood. We report here a family with pachyonychia congenita type I and very mild nail changes to underline that this diagnosis should be considered even in the absence of severe nail thickening.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Arginine
  • Disease Progression
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Infant
  • Keratin-6 / genetics
  • Male
  • Mutation, Missense
  • Nails / pathology*
  • Onycholysis / genetics
  • Onycholysis / pathology
  • Pachyonychia Congenita / genetics*
  • Pachyonychia Congenita / pathology*
  • Proline

Substances

  • KRT6A protein, human
  • Keratin-6
  • Arginine
  • Proline