What is Pachyonychia congenita?

Pachyonychia congenita (PC) is a rare genetic disorder that affects the nails, skin, hair, and teeth. The condition is caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, and KRT17), which encode for proteins involved in the formation of hair, nails, and skin. PC is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

There are two types of Pachyonychia congenita: type 1 and type 2. Type 1 PC is caused by mutations in KRT6A or KRT16, while type 2 PC is caused by mutations in KRT6B, KRT6C, or KRT17. Both types of PC have similar symptoms, but type 2 PC tends to be more severe.

One of the most prominent symptoms of PC is the thickening of nails, known as pachyonychia. This can lead to pain, discomfort, and difficulty in using the hands and feet. In some cases, the nails may also be abnormally shaped or discolored. Other skin-related symptoms include thickened calluses and blisters on the hands and feet, and thickened skin on the palms and soles.

PC can also affect the hair and teeth. People with PC may have coarse and curly hair, and may experience hair loss. The teeth may also be affected, with abnormal tooth enamel and increased susceptibility to cavities and gum disease.

The severity of PC can vary widely among affected individuals. Some people may have mild symptoms, while others may experience significant pain and disability. In severe cases, PC can affect a person's ability to perform daily activities and can even be life-threatening.

There is no cure for PC, and treatment focuses on managing symptoms. This can include using special shoes or inserts to relieve pressure on the feet, applying topical treatments to the skin, and taking pain medications. Surgery may be necessary in some cases to remove thickened skin or to reshape the nails.

Living with PC can be challenging, both physically and emotionally. People with PC may face stigma and discrimination due to their appearance, and may struggle to find appropriate medical care. However, there are resources available to help individuals with PC and their families cope with the condition, including support groups and advocacy organizations.

Pachyonychia congenita is a rare genetic disorder that can have a significant impact on the nails, skin, hair, and teeth. Although there is no cure for PC, there are treatments available to manage symptoms and improve quality of life. With appropriate care and support, people with Pachyonychia congenita can lead fulfilling lives and achieve their goals.