GTR Home > Conditions/Phenotypes > Pachyonychia congenita, type 1

Disease characteristics

Excerpted from the GeneReview: Pachyonychia Congenita
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.

Available tests

2 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

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  • Palmoplantar hyperkeratosis
  • Thick nail
  • Oral leukoplakia
  • Follicular hyperkeratosis

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