First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

Anca Chiriac (Lead / Corresponding author), Cristina Rusu, Alina Murgu, Anca E. Chiriac, Neil J. Wilson, Frances J. D. Smith

Research output: Contribution to journalArticle

Abstract

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails. Oral leukokeratosis, follicular hyperkeratosis, cysts of various types and natal teeth may also be present. We report the first case of genetically confirmed PC from Romania due to a mutation in KRT6A, p.Arg466Pro.

Original languageEnglish
Pages (from-to)123-126
Number of pages4
JournalMaedica
Volume12
Issue number2
Publication statusPublished - Jun 2017

Keywords

  • Pachyonychia congenita
  • Oral leukokeratosis
  • Nail dystrophy
  • palmoplantar keratoderma
  • Plantar pain
  • Keratin mutation

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