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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 Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and Its Relevance for the Pachyonychia Congenita Phenotype

88 citations , June 2000 in “Journal of Investigative Dermatology”

Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.

research A Gene for Pachyonychia Congenita Is Closely Linked to the Keratin Gene Cluster on 17q12-q21

61 citations , September 1994 in “Journal of Medical Genetics”

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

research Pachyonychia Congenita-Associated Alopecia: A Microscopic Analysis Using Transverse Section Technique

17 citations , April 1997 in “American Journal of Dermatopathology”

PC-associated alopecia has unique microscopic features.

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