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Genetic and Rare Diseases Information Center (GARD)

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Pachyonychia congenita

Other Names for this Disease
  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
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What causes pachyonychia congenita?

This condition is caused by a mutation in one of four genes. Mutations in the KRT6A and KRT16 gene cause PC-1; mutations in KRT6B and KRT17 result in PC-2. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes cause the features seen in pachyonychia congenita.[1]
Last updated: 5/10/2011

  1. Pachyonychia congenita. Genetics Home Reference. August 2008; Accessed 5/4/2011.