Diagnosis of Pachyonychia Congenita
Doctors usually diagnose PC by:
- Completing a physical exam, including examination of the skin and nails.
- Asking about the family and medical history, as many cases of PC are inherited.
- Ordering a genetic test. By identifying the disease mutation, a genetic test can rule out other conditions with similar symptoms and confirm that a person has PC. A genetic test may also provide a clearer picture of what to expect based on the PC type and specific mutation. Genetic testing makes it possible for people with PC to participate in clinical trials and learn whether they may be a candidate for a study medication.
Treatment of Pachyonychia Congenita
There is currently no cure or approved therapies for PC. The main goal of care and management is to relieve the pain from calluses, infected nails, or inflamed cysts.
Your doctor may recommend the following treatments for calluses:
- Thinning the calluses. Regular foot care is an essential part of treatment. It is important not to trim too aggressively, as excessive thinning of the calluses can increase the pain. Conversely, trimming regularly, as needed, is important because overly thick calluses can also increase the pain.
- Physical abrasion by trimming or filing the callused areas is the most common approach. Soaking the skin prior to trimming or filing is helpful for some people. While many people pare or file their calluses themselves, others visit a podiatrist, a medical professional who specializes in caring for the feet.
- Moisturizing creams or lotions. Moisturizers can provide relief by softening the skin and preventing cracks.
- Over-the-counter or prescribed anti-inflammatory and pain medications. These may help temporarily alleviate pain and are sometimes taken before engaging in physical activity to “get ahead” of the anticipated pain. They should be used with guidance from a physician.
- Special orthotics or insoles. These can redistribute the weight on your feet and provide relief from pain. In severe cases, a person may need a cane, crutches, or a wheelchair.
Your doctor may recommend the following treatments for thickened nails and cysts:
- Thickened nails.
- Regular trimming. Nails are not usually painful, but they can be if they become infected or damaged.
- Bleach baths. Routinely 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 especially troublesome nails.
- Cysts. These may need to be drained or surgically removed. Your doctor may prescribe antibiotics if cysts become infected. Antiseptic cleansers may help prevent flare-ups.
Who Treats Pachyonychia Congenita?
Dermatologists—who specialize in conditions of the skin, hair, and nails—usually treat PC. Other health care providers 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, 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 care providers and treat other problems as they arise.
Living With Pachyonychia Congenita
Having a painful disorder like PC can be challenging, but the following tips may make it easier to manage:
- Maintain a healthy weight and limit walking and standing. This may lessen the pain from the calluses on the soles of the feet.
- Wear comfortable shoes and socks that reduce moisture. This may help decrease rubbing that can worsen painful calluses.
- Wear gloves to protect the hands during activities like riding a bicycle or using hand tools.
- If you have white patches in your 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 near friction sites, such as the waist, elbows, and knees.
- Visit a mental health professional or join a support group. These can provide emotional support and help you cope with feelings of isolation that often come with having a rare disorder.
- Remember to visit your health care providers regularly and to follow their recommendations.
Because PC is rare, you may need to educate your local medical professionals about how to best care for your condition. Developing a good relationship with a caring doctor who is willing to listen and learn, and to stay current on the medical literature and developing research, is important for people with the disease.