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GlossaryPachyonychia Congenita

rare genetic disorder causing thickened nails and painful skin

Pachyonychia Congenita (PC) is a rare genetic disorder characterized by thickened nails, painful calluses on the soles of the feet and palms of the hands, and other skin abnormalities. It is caused by mutations in one of several keratin genes, which are essential for the structural integrity of skin, hair, and nails.

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research Keratin 17 Mutations Cause Either Steatocystoma Multiplex or Pachyonychia Congenita Type 2

175 citations , September 1998 in “British Journal of Dermatology”

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

research Genetic Hair and Nail Disorders

37 citations , January 2005 in “Clinics in dermatology”

Recent progress has been made in understanding inherited hair and nail disorders.

research In Vivo Alteration of the Keratin 17 Gene in Hair Follicles by Oligonucleotide-Directed Gene Targeting

8 citations , December 2003 in “Experimental Dermatology”

Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.

research A New Type of Pachyonychia Congenita

10 citations , July 2001 in “PubMed”

A new type of pachyonychia congenita may exist, caused by a different keratin mutation.

research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n, Exhibits Preferred Expression in Nail Tissue

31 citations , April 2004 in “Journal of Investigative Dermatology”

A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.

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