Pachyonychia congenita

Definition:

Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17.

References:

[1]. F J Smith, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet. 1998 Jul;7(7):1143-8. [Content Brief]

[2]. Neil J Wilson, et al. A large mutational study in pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1018-24. [Content Brief]

[3]. P E Bowden, et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995 Jul;10(3):363-5. [Content Brief]

[4]. W H Irwin McLean, et al. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. [Content Brief]

[5]. W H McLean, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet. 1995 Mar;9(3):273-8. [Content Brief]

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