Keratin 17 mutations in four families from India with pachyonychia congenita

Manoj Agarwala (Lead / Corresponding author), Pankaj Salphale, Dincy Peter, Neil J. Wilson, Susanne Pulimood, Mary E. Schwartz, Frances J. D. Smith

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals.

Original languageEnglish
Pages (from-to)422-426
Number of pages5
JournalIndian Journal of Dermatology
Volume62
Issue number4
DOIs
Publication statusPublished - 10 Jul 2017

Keywords

  • Cysts
  • keratin
  • keratin mutation
  • nail dystrophy
  • pachyonychia congenita
  • palmoplantar keratoderma
  • plantar pain

Fingerprint Dive into the research topics of 'Keratin 17 mutations in four families from India with pachyonychia congenita'. Together they form a unique fingerprint.

Cite this