Diagnosis of Epidermolysis Bullosa
Doctors usually diagnose epidermolysis bullosa by:
- Asking about family and medical history, because most types of epidermolysis bullosa are inherited.
- Completing a physical exam and closely examining the skin, which can help doctors identify where the skin is separating to form blisters.
- Performing a skin biopsy and reviewing the tissue sample using special microscopic techniques, which helps doctors identify which layers of the skin are affected and determine the type of epidermolysis bullosa you have.
- Ordering genetic testing to identify specifically which gene mutations you may have. This helps doctors diagnose the specific type and subtype of the disease. People who have genetic testing should see a specialist or genetic counselor to help them understand the test results.
Treatment of Epidermolysis Bullosa
There is no cure for epidermolysis bullosa. The goals of treatment are to prevent and control symptoms by:
- Managing pain and itch.
- Protecting skin and caring for blisters and wounds.
- Treating and preventing infection.
- Maintaining or restoring mobility.
- Maintaining good nutrition.
A topical gene therapy was recently approved for the treatment of wounds in patients ages 6 and older with dystrophic epidermolysis bullosa.
Managing Pain and Itch
Your doctor may recommend a pain medication to help manage pain due to blisters and open wounds on the skin or in other areas of the body.
Some types of epidermolysis bullosa cause itching. To help prevent scratching, which can cause fragile skin to tear, your doctor may prescribe medications to help control itch.
Protecting Skin and Caring for Blisters and Wounds
Skin care is an important part of treating epidermolysis bullosa. Because the blisters can be large, it is important to care for the blisters and wounds to help prevent loss of body fluid from the skin and prevent infection of any wounds.
Changing bandages is an important step in protecting the skin and caring for blisters and wounds. Your health care team will give you directions on changing the bandages. When possible, use non-adhesive bandages. Sometimes, bandages still stick to the skin. If this happens, your doctor may recommend soaking the area in warm water to help loosen the bandages.
Treating and Preventing Infection
Some wounds and blisters can become infected. To treat infection, your doctor may prescribe oral or topical antibiotics. Wounds that are not healing may require medicated coverings or bandages.
You can help lower the chance of developing an infection by staying as healthy as possible by:
- Washing your hands before providing skin care or changing dressings.
- Cleaning your blisters and wounds as recommended by your doctor.
- Applying topical antibiotic creams as recommended by your doctor.
- Staying healthy by eating a nutritious diet and following your doctor’s recommendations.
Even if you take precautions, an infection may still develop. If you see any signs of infection, including increased redness, increased pain in a skin lesion, red streaks coming from the wound or blister, pus, or fevers, contact your doctor right away.
Maintaining and Restoring Mobility
For some people, scarring can create contractures (abnormal tightening and shortening of muscles, tendons, or ligaments). This may happen in the hands and feet and limit your ability to move or use those muscles. In addition, pain due to blisters and wounds may limit your ability to walk or participate in activities. A physical or occupational therapist can help improve, restore, or maintain your ability to move or recommend adaptations to help you.
Maintaining Good Nutrition
Some people with epidermolysis bullosa may have blisters in the mouth, esophagus, and intestines, making it difficult to chew, swallow, and digest foods and drinks. Your health care provider may refer you to a dietician to help identify recipes and foods that are nutritious and easy to consume. Some options may include:
- Soft foods that are easy to chew and swallow.
- Foods that are warm or cool; you should avoid hot foods and drinks.
- Foods that help prevent constipation or diarrhea.
Some people may need additional treatments to treat and correct problems from epidermolysis bullosa.
- If you develop anemia, your doctor may recommend specific treatments to manage the complication.
- If scarring causes narrowing in the body, such as the esophagus or urinary tract, surgery can widen and open up the passageways.
- People who are not getting proper nutrition may need surgery to insert a tube that provides a direct access for food to go directly into the stomach.
- Some scarring can cause fingers or toes to fuse together. If this happens, surgery may be needed to release them.
Who Treats Epidermolysis Bullosa?
You may see one of the following specialists:
- Dermatologists, who specialize in conditions of the skin, hair, and nails.
- Clinical geneticists, who diagnose and treat children and adults with genetic disorders.
- Nurse educators, who specialize in helping people understand their overall condition and set up their treatment plans.
- Occupational therapists, who teach how to perform activities of daily living safely.
- Pediatricians, who diagnose and treat children.
- Physical therapists, who teach ways to build muscle strength while keeping the skin protected.
- Primary care physicians, who diagnose and treat adults.
- Registered dietitians, who teach about nutrition and meal planning.
Living With Epidermolysis Bullosa
Living with epidermolysis bullosa can be hard; however, taking steps to care for your skin to help prevent blisters from forming and getting help to cope can help.
To minimize friction, and to stop tears and blisters from forming, your health care team may recommend the following:
- Keep your skin cool. Never apply anything hot to the skin, and avoid using water warmer than your body temperature when bathing.
- Wear loose-fitting, soft clothing to avoid rubbing against the skin or causing friction.
- Avoid overheating by keeping rooms at a cool, even temperature.
- Apply lotions, creams, or ointments to the skin to reduce friction and keep the skin moist.
- Use sheepskin on car seats and other hard surfaces.
- Wear mittens at bedtime to help prevent scratching while asleep.
Managing and caring for epidermolysis bullosa may be hard. You may find it helpful to find a community or online support group. Some people may find it helpful to speak to a mental health professional about coping with the disease.