Dermatologists can identify where the skin is separating to form blisters. To determine the type of epidermolysis bullosa, a small sample of skin is examined under a microscope to see if certain proteins are missing or reduced, or if there are problems in skin structure.
Defective genes can also be identified in epidermolysis bullosa patients and their family members. Prenatal diagnosis can now be accomplished as early as the 10th week of pregnancy.
There is no cure for epidermolysis bullosa, although there are medicines to help prevent infection and to reduce discomfort. Consult your health care professional about the best options for you.
Surgery may be an option in some cases:
- Severe forms of dystrophic epidermolysis bullosa may cause the esophagus to narrow, requiring it to be widened so that food can travel from the mouth to the stomach.
- People who are not getting proper nutrition may need a tube that places food directly in the stomach.
- People whose fingers or toes are fused together may require surgery to release them.
You may see one of the following specialists:
- Dermatologists can diagnose epidermolysis bullosa by identifying where the skin is separating to form blisters. To determine the type of epidermolysis bullosa, a small sample of skin is examined under a microscope to see if certain proteins are missing or reduced, or if there are problems in skin structure.
- Genetic counselors can test for disease genes, provide information on the likelihood of passing the defective gene to your children, and provide advice on future childbearing.
- Dietitians can find recipes for food that is nutritious and easy to consume, and recommend diets to prevent constipation, diarrhea, or painful elimination.
You should try to keep blisters from forming and prevent infection when blisters occur. If you have moderate and severe forms of epidermolysis bullosa, you not only need to care for and protect your skin, but you may also have many complications that require psychological support. Doctors, nurses, social workers, clergy members, psychologists, dietitians, and patient and parent support groups can assist with care and provide information and emotional support.
- Preventing blisters. In many forms of epidermolysis bullosa, blisters will form with the slightest pressure or friction. You should not let your disease prevent you from cuddling your baby, who needs to feel a gentle human touch and affection. There are a number of ways you can protect the skin from injury:
- avoiding overheating by keeping rooms at an even temperature
- applying lotions to the skin to reduce friction and keep the skin moist
- using simple, soft clothing that you can easily get on or off your child
- using sheepskin on car seats and other hard surfaces
- wearing mittens at bedtime to help prevent scratching
- Caring for blistered skin. When blisters appear, you will need to reduce pain or discomfort, prevent loss of body fluid, promote healing, and prevent infection.
- The doctor may prescribe a mild pain reliever during bandage changes. Bandages that are sticking to the skin may be removed by soaking them in warm water. You can use mild soaps during daily bathing, although you should clean small areas at a time.
- Blisters can become quite large and create a large wound when they break. A medical professional can tell you how to safely break a new blister to keep the top skin in place. After opening and draining the blister, the doctor may suggest applying an antibiotic to the area before covering it with sterile, nonsticking gauze pad that is held with gauze strips (not tape). The doctor may recommend keeping the broken blister uncovered in milder cases or if it’s in an area that is difficult to cover.
- A somewhat moist environment helps with healing. However, a covering may be needed to absorb heavy fluid from blister areas, which may otherwise irritate your skin. Your doctor can recommend the best coverings to use for your specific wound.
- Treating infection. The chances of skin infection can be reduced by good nutrition and by careful skin care with clean hands and sterile materials. Your doctor may recommend antibiotic creams and soaks to further reduce the risk.
- However, you can still develop infection even if you do all of these things. Signs of infection are redness and heat around an open area of skin, pus, excessive crusting on the wound surface, a red line or streak under the skin that spreads away from the blistered area, a wound that does not heal, and/or fever or chills. The doctor may prescribe a specific soaking solution or an antibiotic cream or pill. Wounds that are not healing may be treated by special coverings.
- Treating nutritional problems. Some people with epidermolysis bullosa may have blisters in the mouth and esophagus, which may make it difficult to chew and swallow food and drinks. Dietitians can find recipes for food that is nutritious and easy to consume, and recommend diets to prevent constipation, diarrhea, or painful elimination.
- If breast or bottle feeding produces blisters, infants may be fed using a preemie nipple (a soft nipple with large holes), a cleft palate nipple, an eyedropper, or a syringe. When the baby is old enough to take in food, adding extra liquid to finely mashed food makes it easier to swallow. Soups, milk drinks, mashed potatoes, custards, and puddings can be given to young children. However, food should never be served too hot.