What is it?

What is pachyonychia congenita?

Pachyonychia congenita (PC) is a very rare genetic disorder that affects the skin and nails. Most people have thickened nails and calluses on the bottom of the feet. Painful calluses on the soles can make walking difficult. Because of the pain, some people rely on a cane, crutches, or a wheelchair to help with walking.

Who gets it?

Who gets pachyonychia congenita?

PC is very rare. The symptoms usually begin at birth or early in life. It affects people of both sexes and all racial and ethnic groups.

People who have pachyonychia congenita have a mutation (change) in one of their genes. In some cases, PC is passed from a parent to a child, while in others, there is no family history of the disorder.

What are the types?

What are the types of pachyonychia congenita?

There are five types of PC. The type depends on which gene mutates, or changes.  

What are the symptoms?

What are the symptoms of pachyonychia congenita?

The symptoms of PC can vary widely, even among people with the same type or in the same family.

The most common symptoms of PC include:

  • Painful calluses and blisters on the bottom of the feet. In some cases, the calluses itch. Calluses and blisters may also form on the palms of the hands.
  • Thickened nails. Most people with PC have some nails that thicken.
  • Cysts of various types.
  • Bumps around hairs at places where skin rubs together, such as the waist, hips, knees, and elbows. They are most common in children and lessen after the teenage years.
  • White film on the tongue and inside the cheeks.

Other symptoms of PC include:

  • Sores at the corners of the mouth.
  • Teeth at or before birth.
  • White film on the throat, resulting in a hoarse voice.
  • Intense pain on first bite (“first bite syndrome”). The pain is near the jaw or ears and lasts 15–25 seconds when a person begins to eat or swallow. This is more common in younger children and may cause feeding difficulties for some infants. It typically goes away during the teenage years.
What causes it?

What causes pachyonychia congenita?

Pachyonychia congenita is caused by mutations in genes that affect proteins in skin, nails, and hair.

Is there a test?

Is there a test for pachyonychia congenita?

Doctors usually look for PC by:

  • Completing a physical exam, including of the skin and nails.
  • Asking about your family and medical history.
  • Ordering a genetic test to identify the disease mutation.
How is it treated?

How is pachyonychia congenita treated?

There is no cure for PC. The main goal of treatment is to lower the pain caused by the condition.

Calluses. Your doctor may recommend the following treatments for calluses:

  • Thinning the calluses. It is important not to trim too much, as this can increase the pain. However, trimming regularly is important because calluses that are too thick can also increase the pain.
  • Moisturizing creams or lotions. Moisturizers can soften the skin and prevent cracks.
  • Over-the-counter or prescribed anti-inflammatory and pain medications. These may help the pain and are sometimes taken before a person does physical activity.
  • Special orthotics or insoles. These can change how weight puts pressure on your feet and provide relief from pain. Some people may need a cane, crutches, or a wheelchair.

Nails and cysts. Your doctor may try following treatments for thickened nails and cysts:

  • Thickened nails.
    • Regular trimming. Nails are not usually painful, but they can become so if they break or get infected.
    • Bleach baths. Bathing your nails and feet in mild bleach solutions can help prevent infections. You should not use this treatment without first talking to your doctor.
    • Oral antibiotic or antifungal medications. These may be needed if infections develop.
    • Surgery to remove nails in some cases.
  • Cysts. These may need to be drained or surgically removed. Your doctor may prescribe antibiotics if cysts become infected.
Who treats it?

Who treats pachyonychia congenita?

Dermatologists, who specialize in skin disorders, usually treat PC. Other health care professionals who may be involved in your care include: 

  • Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
  • Mental health professionals, who can help you cope with difficulties in the home and workplace that may result from having the disorder.
  • Podiatrists, medical specialists who provide care for the feet and lower legs.
  • Primary care doctors, such as family physicians, internal medicine specialists, and pediatricians, who coordinate care between the different health providers and treat other problems as they arise.
Living With It

Living with pachyonychia congenita

Having a painful disorder like PC can be difficult, but the following may make it easier to manage:

  • Maintain a healthy weight, and limit walking and standing.
  • Wear comfortable shoes and socks that reduce moisture.
  • Wear gloves to protect the hands during activities like riding a bicycle or using hand tools.
  • If you have white patches in the mouth, brush your teeth and tongue frequently and gently to reduce their appearance. Infants with this symptom may feed better if you use a bottle with a soft nipple and a wide opening.
  • Use moisturizers, such as those that contain petroleum jelly or lanolin, to soothe bumps that develop on the waist, elbows, and knees.
  • Visit a mental health professional or join a support group. These can help you cope with emotions that may come with having a rare disorder.

Remember to visit your health care providers regularly and to follow their recommendations.

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