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Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

Manoj Agarwala1, Pankaj Salphale1, Dincy Peter1

  • 1Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.

Indian Journal of Dermatology
|August 11, 2017
PubMed

Insights

Pachyonychia congenita (PC) is a rare genetic skin disorder. Genetic testing revealed mutations in the KRT17 gene in four Indian families, confirming the diagnosis.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder.
  • It is caused by mutations in keratin genes KRT6A, KRT6B, KRT6C, KRT16, or KRT17.
  • Key features include palmoplantar keratoderma, plantar pain, and nail dystrophy.

Purpose of the Study:

  • To investigate the genetic basis of Pachyonychia congenita in four unrelated Indian families.
  • To confirm clinical diagnoses of PC through genetic testing.

Main Methods:

  • Clinical diagnosis of Pachyonychia congenita.
  • Genetic testing to identify mutations in keratin genes.

Main Results:

  • Four Indian families with clinical PC diagnosis were studied.
  • Genetic analysis identified mutations in the KRT17 gene in all affected individuals across these families.

Conclusions:

  • Mutations in the KRT17 gene are a cause of Pachyonychia congenita in the studied Indian population.
  • Genetic confirmation is crucial for diagnosing PC.

Keywords:
Cystskeratinkeratin mutationnail dystrophypachyonychia congenitapalmoplantar keratodermaplantar pain

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