Other Names for this Disease
- Congenital pachyonychia
- Pachyonychia congenita syndrome
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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.
Last updated: 5/10/2011
- Pachyonychia congenita. Genetics Home Reference. August 2012; http://ghr.nlm.nih.gov/condition/pachyonychia-congenita.