Pachyonychia congenita

Pachyonychia Congenita

Diagram of autosomal dominant inheritance

Pachyonychia Congenita (PC) is a rare genetic disorder characterized by a variety of skin and nail abnormalities. It is primarily caused by mutations in one of the keratin genes, which are responsible for the structural integrity of epithelial cells.

Clinical Features

Pachyonychia Congenita presents with a range of symptoms, which can vary significantly among affected individuals. The most common features include:

• Nail Dystrophy: Thickened, discolored nails, often with a characteristic "V" shape at the distal edge.
• Palmoplantar Keratoderma: Thickening of the skin on the palms and soles, which can lead to painful blisters and calluses.
• Oral Leukokeratosis: White patches on the tongue and inside the mouth.
• Follicular Hyperkeratosis: Rough bumps on the skin, particularly on the elbows, knees, and other extensor surfaces.

Genetics

Pachyonychia Congenita is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene in each cell is sufficient to cause the disorder. The condition is linked to mutations in one of several keratin genes, including KRT6A, KRT6B, KRT6C, KRT16, and KRT17.

Diagnosis

Diagnosis of Pachyonychia Congenita is based on clinical examination and family history. Genetic testing can confirm the diagnosis by identifying mutations in the keratin genes associated with the condition.

Management

There is currently no cure for Pachyonychia Congenita, and treatment focuses on managing symptoms. This may include:

• Pain Management: Use of analgesics to relieve pain associated with palmoplantar keratoderma.
• Foot Care: Regular trimming of calluses and use of special footwear to reduce pressure on the feet.
• Nail Care: Regular trimming and care of nails to prevent complications.

Related Pages

• Keratin
• Genetic disorder
• Autosomal dominant