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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 Visualization of Sweat Suppression Following Botulinum Toxin A by Soluble Microneedle Arrays

April 2016 in “Journal of Investigative Dermatology”

Microneedle arrays deliver botulinum toxin effectively for sweat suppression, similar to injections.

research Is Thyrotropin-Releasing Hormone a Novel Neuroendocrine Modulator of Keratin Expression in Human Skin?

10 citations , February 2013 in “British Journal of Dermatology”

Thyrotropin-releasing hormone may help control skin and hair growth and could aid in treating related disorders.

research Resolution of Plantar Hyperkeratosis of Pachyonychia Congenita During Chemotherapy for Ewing Sarcoma

2 citations , August 2013 in “British Journal of Dermatology”

Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.

research Pachyonychia Congenita: Sporadic Onset With Mutation Analysis

January 2023 in “Indian dermatology online journal”

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

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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