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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-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies

3 citations, June 2022 in “European journal of human genetics”

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B

4 citations, December 2013 in “The Journal of Dermatology”

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

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 Keratin Disorders: From Gene to Therapy

109 citations, September 2011 in “Human molecular genetics online/Human molecular genetics”

New treatments targeting specific genes show promise for treating keratin disorders.

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