Pachyonychia congenita

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Pachyonychia Congenita

Pachyonychia Congenita (pronounced: pak-ee-oh-nik-ee-uh kuhn-jen-i-tuh) is a rare genetic disorder that primarily affects the skin, nails, and other ectodermal tissues. The term is derived from the Greek words 'pachy' meaning 'thick', 'onycho' meaning 'nail', and 'congenita' meaning 'present from birth'.

Symptoms

The most common symptom of Pachyonychia Congenita is the thickening of the nail (onychogryphosis), which can occur in both the fingernails and toenails. Other symptoms may include painful blisters and calluses on the soles of the feet (plantar keratoderma), cysts, white patches on the tongue and inside the mouth (leukokeratosis), and thickened skin on the palms of the hands (palmoplantar keratoderma).

Causes

Pachyonychia Congenita is caused by mutations in the genes KRT6A, KRT6B, KRT6C, KRT16, or KRT17. These genes provide instructions for making proteins that are essential for the normal development of skin cells. Mutations in these genes disrupt the normal development of skin cells, leading to the symptoms of Pachyonychia Congenita.

Diagnosis

Diagnosis of Pachyonychia Congenita is based on the clinical symptoms and confirmed by genetic testing. The genetic testing can identify mutations in the KRT6A, KRT6B, KRT6C, KRT16, or KRT17 genes.

Treatment

There is currently no cure for Pachyonychia Congenita. Treatment is focused on managing the symptoms and may include the use of moisturizers and keratolytic agents to soften the skin, pain medication to manage pain, and surgery to remove painful calluses.

See Also

External links

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