Epidermolysis bullosa

Diagnosis

Your health care provider may identify epidermolysis bullosa from the skin's appearance. You or your child may need tests to confirm the diagnosis. The tests may include:

• Biopsy for immunofluorescence mapping. With this technique, a small sample of affected skin or mucous membrane is removed and examined with a special microscope. It uses reflected light to identify the layers of skin involved. This test also identifies whether the proteins needed for skin growth are present and healthy.
• Genetic testing. With this test, your health care provider takes a small sample of blood and sends it to a lab for DNA analysis.
• Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.

Treatment

Treatment for epidermolysis bullosa may first include lifestyle changes and home care. If these don't control symptoms, your health care provider might suggest one or more of the following treatments:

Medications

Medications can help control pain and itching. Your health care provider may also prescribe pills to fight infection (oral antibiotics) if there are signs of widespread infection, such as fever and weakness.

Surgery

Surgical treatment may be needed. Options sometimes used for this condition include:

• Widening the esophagus. Blistering and scarring of the long, hollow tube that runs from the throat to the stomach (esophagus) may lead to narrowing of the tube. This makes it hard to eat. Making the tube wider with surgery can make it easier for food to travel to the stomach.
• Placing a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy tube) may be needed to deliver food directly to the stomach.
• Grafting skin. If scarring has affected the function of a hand, the surgeon may suggest a skin graft.
• Restoring movement. Repeated blistering and scarring can cause fusing of the fingers or toes or unusual bends in the joints (contractures). A surgeon might recommend surgery to correct these conditions if they restrict movement.

Rehabilitation therapy

Working with a rehabilitation specialist can help in learning to live with epidermolysis bullosa. Depending on your goals and how movement is limited, you might work with a physical therapist or an occupational therapist.

Potential future treatments

Researchers are studying better ways to treat and relieve the symptoms of epidermolysis bullosa, including:

• Gene therapy, including a gel applied to wounds of people with dystrophic epidermolysis bullosa
• Bone marrow (stem cell) transplantation
• Protein replacement therapies
• Other cell-based therapies

Lifestyle and home remedies

You can take steps at home to care for blisters and prevent new ones from forming. Talk with your health care provider about how to care for wounds and provide good nutrition.

Caring for blisters

Your health care provider can show you how to care for blisters properly and advise you on ways to prevent them. Ask about safe ways to drain blisters before they get too large. Ask about recommended products for keeping the affected areas moist. This helps with healing and preventing infection.

In general, take these steps:

• Wash your hands. Wash your hands before touching blisters or changing dressings.
• Control pain. About 30 minutes before a dressing change or other painful procedure, older children and adults may take a prescription-strength pain medication. For people who don't respond to pain relievers, other options include antiseizure drugs such as gabapentin.
• Cleanse skin daily. To cleanse a wound, soak it for 5 to 10 minutes in a mild solution of salt and water. Other options are mild solutions of diluted vinegar or bleach. Soaking loosens stuck bandages and helps reduce the pain of changing bandages. Rinse with lukewarm water.
• Puncture new blisters. This prevents them from spreading. Use a sterile needle to puncture each new blister in two spots. But leave the roof of the blister intact to allow for drainage while protecting the underlying skin.
• Apply treated dressings. Spread petroleum jelly or other thick moisturizer on a nonstick bandage (Mepilex, Telfa, Vaseline gauze). Then gently place the bandage on the wound. Secure the bandage with rolled gauze if needed.
• Wrap blistered hands and feet daily. With some severe forms of this condition, daily wraps help prevent contractures and fusion of the fingers and toes. Special wraps and gauze dressings are useful for this treatment.
• Watch for signs of infection. If you notice heat, pus or lines leading from the blister, talk with your health care provider about prescription antibiotics.
• Keep it cool. Blistering is often worsened by heat and warm conditions.

Providing good nutrition

A varied, nutritious diet promotes growth and development in children and helps wounds heal. If blisters in the mouth or throat make it difficult to eat, here are some suggestions:

• For babies with mild epidermolysis bullosa, breastfeeding is fine. Otherwise, minimize injury from feeding by using bottle nipples designed for premature infants, a syringe or a rubber-tipped medicine dropper. Try softening bottle nipples in warm boiled water.
• For older children, serve nutritious, soft foods that are easy to swallow, such as vegetable soup and fruit smoothies. Puree solid foods with broth or milk.
• Serve food and beverages lukewarm, at room temperature or cold.

Talk with your health care provider about how you or your child can get all the needed nutrients and vitamins.

Coping and support

Having a child with epidermolysis bullosa affects every aspect of your life. It can be emotionally distressing for you, your child and family members. Children with this condition need the lifelong support of their health care team and families.

Treating and preventing blisters and worrying about complications can be stressful. You may find it helpful to share concerns and experiences with families in similar circumstances. Ask your health care provider about epidermolysis bullosa support groups in your area. If joining a support group isn't for you, ask about counselors, clergy or social workers who work with families coping with epidermolysis bullosa.

Ask your health care provider to suggest stress-reduction resources or consult with a psychologist to learn stress-reduction techniques. These approaches may help you cope.

Preparing for your appointment

You may be referred to a doctor who specializes in the diagnosis and treatment of skin conditions (dermatologist).

Specialized epidermolysis bullosa centers

Centers that specialize in the diagnosis, evaluation and treatment of people with epidermolysis bullosa may belong to a network called EB Clinet. Such centers are staffed with doctors, nurses, social workers and rehabilitation specialists who provide specialized care for people with this condition.

Visiting such a center regularly can improve quality of life and reduce hospitalizations from complications for people with epidermolysis bullosa. Ask your health care provider if a specialized epidermolysis bullosa center is available to you.

No matter what type of health care provider you see first, here's some information to help you prepare for the appointment.

What you can do

• List your or your child's signs and symptoms and how long they've been present.
• Note any new sources of friction around the blistering areas, if any. For example, tell your health care provider if your toddler has recently started walking or your older child has begun physical activities that put new pressure on the affected areas.
• List key medical information, including other medical problems you or your child has received a diagnosis for. Also list the names of all nonprescription and prescription medications you or your child is taking. Also list any vitamins and supplements.
• Ask a trusted family member or friend to join you for the appointment. If your health care provider tells you that your child has epidermolysis bullosa, you may have difficulty focusing on anything else that's said. Take someone along who can offer emotional support and help you recall all the information discussed at your appointment.
• List the questions to ask your health care provider.

Questions to ask your doctor

• What's the most likely cause of the signs and symptoms?
• What are other possible causes for these signs and symptoms?
• What kinds of tests are needed?
• What treatments are available, and what types of side effects might they cause?
• What can be done to relieve pain or discomfort?
• How do I take care of my child's needs, such as feeding, bathing and clothing?
• What are the possible complications of this condition?
• What signs or symptoms related to this condition should prompt me to call you?
• What signs or symptoms should prompt me to call 911 or my local emergency number?
• What restrictions do we need to follow?
• Do you think my child's symptoms will improve with age?
• If I plan to have more children, are they at increased risk of this condition?
• How can I find other people who are coping with epidermolysis bullosa?
• Where can I find additional information and resources?

What to expect from your doctor

Your health care provider is likely to ask you a number of questions. Being ready to answer questions such as the following may reserve time to go over any points you want to talk about in-depth:

• When did you first notice the blistering?
• What parts of the body have been affected?
• Does anything in particular seem to trigger blistering? For example, is it made worse by heat?
• Have sores developed where bandages and adhesive tape have been applied?
• Have you noticed other signs or symptoms in addition to blistering? For example, a hoarse voice?
• Does eating or swallowing cause pain?
• Has anyone in your family had a condition marked by significant blistering?

What you can do in the meantime

In the time leading up to your appointment, you can minimize the risk of your child developing new blisters by:

• Lifting or touching the child very gently
• Keeping your home consistently cool if possible
• Keeping your child's skin moist with lubricants, such as petroleum jelly
• Dressing your child only in soft materials
• Keeping your child's fingernails short

Call your health care provider immediately if you see signs of infection around a blister.