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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 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 Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations, November 2001 in “Archives of Dermatology”

Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.

research Building Models for Keratin Disorders

4 citations, April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology”

Krt16-deficient mice help understand skin disorders like PC and FNEPPK.

The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain

research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain

70 citations, December 2004 in “Differentiation”

The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.

research Botulinum Toxin Off-Label Use in Dermatology: A Review

53 citations, January 2017 in “Skin appendage disorders”

Botulinum toxin shows promise for various skin conditions but requires more research for confirmation and standardized use.

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