Pachyonychia congenita Type I

Pachyonychia congenita Type I is a skin disorder. It is inherited in an autosomal dominant manner, and it is caused by the production of defective keratin proteins. It is quite rare (perhaps affecting ~5,000 people), leading to large (and painful) calluses on hands and feet.

Variations in either the keratin-16 KRT16 gene or the keratin-6A KRT6A have been reported to cause this disorder. These include:

• In the KRT16 gene:
  • rs57424749
  • rs59349773
  • rs58293603
  • rs59328451
  • rs28928894
  • rs28928895

• In the KRT6A gene:
  • rs28933087
  • rs60554162
  • rs57052654