Pachyonychia congenita

Pachyonychia Congenita is a rare genetic disorder that primarily affects the skin, nails, and other keratinous tissues. It is characterized by thickened nails (pachyonychia) and painful palmoplantar keratoderma. The condition is caused by mutations in the genes that encode keratin, a protein that provides strength and resilience to the skin and its appendages.

Symptoms and Signs

The most common symptoms of Pachyonychia Congenita include:

• Thickened nails (pachyonychia)
• Painful palmoplantar keratoderma
• Oral leukokeratosis
• Follicular keratosis
• Cysts

Causes

Pachyonychia Congenita is caused by mutations in the KRT6A, KRT6B, KRT16, or KRT17 genes. These genes provide instructions for making keratins, which are tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, nails, and the lining of internal organs and body cavities.

Diagnosis

Diagnosis of Pachyonychia Congenita is based on the clinical features and confirmed by genetic testing.

Treatment

There is currently no cure for Pachyonychia Congenita. Treatment is symptomatic and supportive, focusing on managing the painful palmoplantar keratoderma and other symptoms.

See Also

• Keratin
• Genetic disorder
• Skin

References

Pachyonychia congenita Resources
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