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Epidermolysis bullosa: Diagnosis and treatment

If your child has epidermolysis bullosa (EB), you’ll often see signs of this disease, such as blistering or missing skin, when your child is born. The following explains how to get an accurate diagnosis, what treatment may involve, and the prognosis for a child born with EB.

How is epidermolysis bullosa diagnosed?

If a newborn has blisters or missing skin, it’s essential to find out why. While a child is still in the hospital, a dermatologist or pediatric dermatologist may be consulted. Other conditions aside from EB can cause blistering.

To diagnose EB, a dermatologist will examine the child’s skin closely, looking at the blisters and other signs. Your dermatologist will also examine other parts of the child’s body to see if they are affected.

During this evaluation, you should be prepared to answer questions, such as “Does anyone in your family have EB or blistering skin?”

After the exam and questioning, your dermatologist will remove a small part of a blister. This sample is called a “skin biopsy.” It will be sent to a lab that has the equipment required to diagnose EB. This testing is required to find out whether a child has EB. A specialized test may be able to determine the type of EB the child has.

Genetic testing may be also be recommended. This can tell you which genes are causing the EB. For this genetic test, blood needs to be drawn.

How is epidermolysis bullosa treated?

There is no cure for EB, so EB may require lifelong care. When possible, a person with EB is usually referred to an EB treatment center. These are located across the United States.

Child with EB

Treatment for EB consists of caring for wounds, managing pain, preventing new injuries, and watching for and treating complications.

Epidermolysis bullosa on child's ankles and feet

At an EB treatment center, you’ll find specialists from different areas of medicine who have experience with EB. Specialists include pediatricians, dermatologists, pediatric dermatologists, nurses, dieticians, and psychologists. They can help with the extensive care that a patient with EB often needs.

If you cannot go to an EB treatment center, you should see a doctor who has experience with EB, such as a pediatric dermatologist or dermatologist. In this case, your dermatologist may be the primary doctor you see about EB. The dermatologist will refer you to other specialists as needed.

The amount of care a person with EB needs varies. Parents who have a child with mild EB may be able to care for the child without much help once they learn how to treat the wounds and prevent new injuries. More severe EB requires professional medical help.

When caring for someone who has EB, treatment usually involves:

  • Wound care: Caring for wounds can take an hour or longer each day. Most patients must wear bandages that must be changed every day or every other day.

    If EB is severe, a patient may need a nurse’s help with wound care. A nurse may go to the home of a patient with EB to help with wound care.

  • Pain management: People with EB are often in pain. So many things can cause pain, including the blisters and raw skin, an infection, swallowing, eating, urinating, having a bowel movement, or just moving about.

    Medication is often needed to relieve the pain. Antidepressants, medicine used to treat epilepsy, and acetaminophen can be helpful. If the pain is severe, medicine like fentanyl, morphine, or ketamine can be prescribed.

    Before bathing and wound care, it may be necessary to give pain medication to someone with EB. Adding salt to the bathwater and using dressings that contain pain medicine can also help reduce pain during wound care.

  • Preventing new injuries: Using padded bandages and wearing loose-fitting clothes can help prevent new wounds.

    Your dermatologist can also give you detailed advice that can help avoid new injuries.

  • Watching for and treating complications: The blisters and wounds can lead to other health problems, which your doctor may call complications. Here are possible complications that can occur and what treatment for these may involve:

    • Anemia: Good wound care and preventing (and treating) an infection can reduce blood loss, which leads to anemia. When anemia develops, iron supplements, giving iron intravenously, or a blood transfusion can treat it.

    • Cavities and other problems in the mouth: Gum disease and cavities are common in people who have EB. Patients may need to see a dentist who has experience treating EB every 3 months.

    • Constipation: EB can make a bowel movement excruciatingly painful. A dietitian may be able to prevent constipation and other problems like diarrhea by changing the patient’s diet.

      Fingers or toes join together

      As skin heals on the fingers or toes, the digits can join together, becoming one. Special dressings can help keep them apart. Surgery can separate fingers or toes that have joined together.

      Dystrophic epidermolysis bullosa blisters on legs and feet of a child
    • Dehydration: Open wounds can lead to dehydration. This can be treated by giving the child lots of fluids to drink. Sometimes, the child needs an IV to replace lost fluids.

    • Dry skin: Applying a moisturizer every day can help reduce dry skin, which can reduce blistering, pain, and itching. If a nurse helps with wound care, the nurse can apply the moisturizer.

    • Excess sweating: Common in patients with a type of EB known as epidermolysis bullosa simplex (EBS), excessive sweating should be treated. Treating it can reduce blistering and itching.

    • Eye problems: Sores on the eye, blistering eyelids, and other eye problems can occur. The sooner these are treated, the better.

    • Infection: This can often be prevented if everyone treating the wounds has clean hands. Good wound care and proper nutrition can also help. Even with these precautions, infections occur. Treatment often involves changing bandages daily and using an antibiotic. A severe infection can last a long time.

    • Malnutrition: The body may use most of the nutrition it gets to heal wounds, leaving nothing for the rest of the body. This can prevent a child from growing.

      Malnutrition also occurs when blisters form in the mouth or esophagus because eating becomes too painful. A dietitian may be able to recommend foods that a child can eat; however, sometimes the child needs a feeding tube.

    • Non-healing wounds: A special wound covering can help. Some chronic wounds, however, will not fully close. No one knows why this happens.

    • Narrowing of the mouth, esophagus, or urethra: Scarring can cause these parts of the body to narrow. Surgery can open them.

    • Problems moving: Physical and occupational therapy can prevent (or delay) shortening of the muscles and tendons, which can lead to deformities. Hydrotherapy (exercises done in water) can be especially helpful.

    • Skin cancer: Usually beginning in a patient’s 20s or 30s, skin cancer can develop in areas with long-standing wounds and scars. The goal of treatment is to remove all of the cancer. Surgery is often used; however, other types of treatment for skin cancer may be necessary.

Researchers are trying to improve treatment

While today’s treatment relies on wound care, pain management, and treating complications, researchers are looking for ways to improve this — and possibly cure EB. They are making great progress in this area.

What is the outlook for someone who has epidermolysis bullosa?

This varies with the severity of the EB.

If a child has mild EB, the EB may become less severe with age. As an adult, life may be somewhat normal.

At the other end of the spectrum, EB can require hours of care each day for life. A nurse’s help may be necessary to bathe and change bandages. The patient may frequently see medical doctors from different specialties including dermatology, ophthalmology, gastroenterology, and hematology.

Severe EB can be life-threatening. Widespread blistering, infections, and loss of body fluid can cause serious problems. Some children die of EB.

Some people who have severe EB die in their 20s or 30s of a type of skin cancer called squamous cell carcinoma. When this skin cancer develops in the wounds, it can be very aggressive. This makes it hard to successfully treat.

While these generalizations apply, it’s important to remember that each person who has EB is different. You cannot always predict what will happen.

Images used with permission of the American Academy of Dermatology National Library of Dermatologic Teaching Slides.

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