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Did you mean Pachyonychia Congenita?

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 The Keratins and Their Disorders

53 citations, September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics”

Mutations in keratin genes cause cell fragility and various skin disorders.

research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins

1 citations, July 2021 in “IntechOpen eBooks”

Environmental factors can cause mutations in skin proteins, leading to skin disorders.

research Clinical and Molecular Genetic Studies in Hereditary Hair Loss

August 2021

Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.

research Hair and Nail Disorders of Childhood

7 citations, December 2008 in “Expert Review of Dermatology”

The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.

The Non-Neuronal and Nonmuscular Effects of Botulinum Toxin: An Opportunity for a Deadly Molecule to Treat Disease in the Skin and Beyond

research The Non-Neuronal and Nonmuscular Effects of Botulinum Toxin: An Opportunity for a Deadly Molecule to Treat Disease in the Skin and Beyond

44 citations, October 2017 in “British Journal of Dermatology”

Botulinum toxin has potential for treating various skin conditions and improving wound healing.

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