Epidermolysis bullosa: Diagnosis and treatment

If you or your child might have epidermolysis bullosa, it’s important to find out what’s going on. For anyone living with this condition, treatment is necessary to ease symptoms, protect their skin, and reduce the risk of developing complications like an infection.

The following explains how this condition is diagnosed and what treatment may involve.

How do dermatologists diagnose epidermolysis bullosa?

Getting a diagnosis takes time. Your dermatologist begins by closely examining the skin and other parts of the body that this condition can affect, like the inside of the mouth.

Your dermatologist will want to know if any blood relatives have (had) epidermolysis bullosa or a condition that causes blisters to form

Before seeing your dermatologist try to find out if a blood relative of your child’s has (had) EB. This information can be helpful.

If your dermatologist suspects epidermolysis bullosa after examining the skin and learning about blood relatives, specialized testing is required. This is the only way to know for certain whether someone has this condition.

Your dermatologist may also recommend genetic testing. It can identify the genes causing epidermolysis bullosa.

After gathering all the information and test results, your dermatologist will give you the diagnosis. If the diagnosis is epidermolysis bullosa, your dermatologist will talk with you about treatment.

How is epidermolysis bullosa treated?

People diagnosed with epidermolysis bullosa are often referred to a specialized treatment center when possible. At these centers, you’ll find dermatologists, pediatric dermatologists, nurses, dieticians, psychologists, and others who have expertise in managing this condition.

If you cannot go to a specialized treatment center, you will see a doctor who has experience treating patients who have epidermolysis bullosa, such as a pediatric dermatologist or dermatologist. This doctor will be your primary doctor for epidermolysis bullosa, and you’ll be referred to other specialists as needed.

The doctor (or team) caring for a patient with epidermolysis bullosa develops a treatment plan carefully tailored to the patient’s needs. This care plan is written and given to the family and others who will care for the patient.

The amount of care that someone needs will vary. Parents who have a child with mild epidermolysis bullosa may be able to care for the child without much help once they learn how to treat the wounds and prevent new injuries.

When the condition is moderate or severe, the patient requires professional medical help, often from a team of medical professionals with different areas of expertise. A nurse may go to the patient's home help with treatment.

A treatment plan usually involves the following:

Wound care for epidermolysis bullosa

Dressings, bandages, and sometimes medications are used to help skin heal. Dressings are placed directly on the wound to absorb blood and other fluids. Bandages hold the dressings in place.

Wound care involves changing bandages and dressings, usually daily

When treating wounds, wearing a new pair of clean medical gloves each time can help decrease the risk of an infection from developing in a wound.

Most bandages and dressings are changed daily. However, some wounds may be treated every other day due to the discomfort caused by removing the dressings.

Great care is taken when removing bandages and dressings, which are usually changed one at a time.

Soaking to remove bandages: Some patients with epidermolysis bullosa soak their wounds for 5 to 10 minutes to remove bandages.

Soaking may be done in a bathtub filled with warm water and a small amount of bleach. This type of bath is called a “bleach bath.” To make a bleach bath, dermatologists recommend:

• Using bleach that contains 5% or 6% sodium hypochlorite concentration (also called “household bleach”)

• Adding bleach while you are filling the tub with warm (not hot) water

• Pouring ¼ to ½ cup of household bleach into the running water

• Filling the tub with about 40 gallons of water, which most tubs, including clawfoot tubs, hold when full

Once a dressing is removed, the person caring for the wounds will look for signs of infection or inflammation, as these can interfere with wound healing.

Each wound is then gently cleansed with a mild, non-toxic solution like saline, treated with medication if necessary, and covered with a new dressing and bandage.

Medications and other treatments for epidermolysis bullosa wounds: The U.S. Food and Drug Administration (FDA) has approved two medications and a skin graft specifically for treating the wounds:

• Gene therapy applied to wounds (beremagene geperpavec-svdt): This medication can accelerate wound healing in people with a type of epidermolysis bullosa called dystrophic epidermolysis bullosa (DEB).
  
  DEB impairs the body’s ability to produce a type of collagen that holds the layers of skin together. This medication, which is applied to the wound, contains a gene that can restore the skin’s ability to make the needed collagen.
  
  In a clinical trial of 31 patients with DEB, who had either the recessive (RDEB) or dominant type (DDEB) of DEB, each patient had two wounds of about the same size treated. One wound was treated with this medication, and the other was treated with what looked like the medication but contained no medication.
  
  After 26 weeks, 65% of the wounds treated with the medication had completely closed. Only 26% of the wounds that didn’t receive medication had closed.
  
  Side effects can occur. In the clinical trial, the most common side effects included itching, chills, rash, cough, and a runny nose. None of the patients stopped treatment due to side effects.
  
  Only a medical professional like a dermatologist or nurse should apply this medication, which is given once a week. Your dermatologist or nurse will decide which wounds to treat. Treatment continues until a wound heals completely.
  
  Anyone who is pregnant should avoid direct contact with this medication, the treated wounds, and dressings used on the treated wounds.
  
  The FDA approved this medication to treat patients with DEB who are 6 months of age and older. It offers hope because it may reduce or prevent non-healing wounds, infections, and discomfort.

  • Brand name: Vyjuvek

• Gel containing birch bark (B-VEC): This medication is approved to treat open wounds that may not heal in people who have either dystrophic epidermolysis bullosa (DEB) or junctional epidermolysis bullosa (JEB).
  
  The gel contains extracts from the bark of birch trees that have naturally occurring substances called triterpenes.
  
  The FDA approved this medication after reviewing the results from a clinical trial of 233 patients (156 were children) in 28 countries. In this trial, two wounds of about the same size were treated on each patient. One wound was treated with B-VEC gel, and the other was treated with a gel that contained no medication.
  
  Within 45 days, 41% of patients had healing of the wounds treated with B-VEC gel.
  
  The most common side effects were itchiness and pain where the medication was applied.
  
  This medication can be applied at home to the wounds, which are then covered with a dressing. B-VEC can be used daily until the wound heals.

  • Brand name: Filsuvez

• Skin graft (prademagene zamikeracel): This treatment can help heal long-standing, non-healing wounds in people who have recessive dystrophic epidermolysis bullosa (RDEB).
  
  This skin graft is a type of gene therapy. It’s designed to add a healthy, working gene to the patient’s own skin cells.
  
  Treatment begins when some of the patient’s own skin cells are removed. In the laboratory, copies of a gene called COL7A1 are added to the patient’s removed skin cells. This gene modifies the patient’s cells so that they can heal EB wounds.
  
  In the lab, this mixture of the patient’s own cells and added genes are grown into cellular sheets. Once ready, the cellular sheets are surgically placed over long-standing EB wounds with a type of surgery called a skin graft.
  
  In the clinical trials, which led the U.S. Food and Drug Administration (FDA) to approve this treatment, more than 50% of the treated wounds closed within 6 months. Patients also said they had noticeably less pain and itching. During the 38-month follow-up period, no serious side effects were reported.
  
  The most common side effects, pain and itching, were due to the surgery.
  
  People living with RDEB have an increased risk of developing a type of skin cancer called squamous cell carcinoma. During the clinical trials, it was noted that none of the patients developed this skin cancer in the wounds that were treated with this skin graft. Four patients did develop squamous cell carcinoma in wounds not treated with this skin graft.
  
  This skin graft is FDA approved to treat patients 6 years of age and older who have RDEB.

  • Brand name: Zevaskyn

Pain management

Pain is a common symptom of epidermolysis bullosa. Many things can cause pain, including the blisters and raw skin, dressing changes, an infection, swallowing, eating, or just moving.

Medication is often needed to relieve the pain. Antidepressants, medication for relieving nerve pain, or the pain reliever acetaminophen can help. If the pain is severe, fentanyl, morphine, or ketamine can be prescribed.

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

Itch treatment

Itch is another common symptom of epidermolysis bullosa. Itch can be triggered by inflammation, overheating due to wearing bandages, or even a pain medication.

To treat itch, your dermatologist will start by asking questions to find out what could be the cause. Treatment may include using different bandages or medication that can relieve itching.

Prevent new injuries

When someone has epidermolysis bullosa, their skin is easily wounded. To prevent new wounds, your dermatologist may recommend using padded bandages or wearing loose-fitting clothes. Tight clothing can rub on the skin, causing it to slide off.

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

Watch for and treat complications due to epidermolysis bullosa

Sometimes, blisters and wounds lead to other health problems, which your dermatologist may call complications. Here are possible complications that can occur and what treatment may involve:

• Anemia: Good wound care, along with preventing and treating an infection, can reduce the blood loss that leads to anemia. When anemia develops, your dermatologist may treat it with iron supplements, an injection of iron, or a blood transfusion.

• Cavities and other problems in the mouth: Gum disease and cavities are common. It’s helpful to see a dentist who has experience treating people who have epidermolysis bullosa. Most patients see their dentist every 3 months.

• Constipation: Epidermolysis bullosa can make bowel movements painful, so some patients become constipated. A dietitian may be able to prevent constipation and other problems like diarrhea by changing the patient’s diet.

• Dehydration: Open wounds can lead to dehydration. This can be treated by giving the patient lots of fluids to drink. Sometimes, an IV is needed to replace lost fluids.

• Dry skin: Applying moisturizer as recommended by your dermatologist can help reduce dry skin, which can reduce blistering, pain, and itching.

• Excess sweating: Common in patients with a type of epidermolysis bullosa known as epidermolysis bullosa simplex, excessive sweating should be treated. Treating it can reduce blistering and itching. Your dermatologist may treat the excess sweating with an antiperspirant. If stronger treatment is required, a prescription medication or injections of botulinum toxin may be effective.

• Eye problems: Sores on the eye, blistering eyelids, and other eye problems can occur. The sooner these are treated, the better. Some eye problems can be treated with eye drops used to lubricate dry eyes. Your dermatologist may also refer you to an ophthalmologist (eye doctor).

• 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.

• Infection: To decrease the risk of infection, make sure everyone treating the wounds has clean hands. Good wound care and proper nutrition can also help. Even with these precautions, an infection can occur. Treatment often involves changing dressings and bandages daily, along with 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, making eating painful. A dietitian may be able to recommend foods to eat. Sometimes, a feeding tube is needed for a while.

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

• Non-healing wounds: A special wound covering can help. Some chronic wounds, however, will not fully close. FDA-approved medications can also help heal some wounds.

• 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: This cancer can develop in areas with long-standing wounds and scars. Skin cancer could begin early, in one’s as the 20s or 30s. Surgery is often the most effective way to remove skin cancer. Sometimes, other types of treatment for skin cancer are recommended.

Research improving treatment

The FDA has approved two medications and a skin graft that can help heal wounds.

Researchers continue to investigate other treatment options. These treatments focus on preventing epidermolysis bullosa from worsening and giving patients the genes and products needed to restore their skin.

What is the outlook for someone who has epidermolysis bullosa?

If a child has mild epidermolysis bullosa, the condition may become less severe with age. Life as an adult may not require time-consuming wound care or pain medication.

If the condition is moderate or severe, a person with epidermolysis bullosa may need hours of care every day for life. This may include a caretaker’s help to bathe and change dressings and bandages. Frequent appointments to see medical doctors from different specialties, including dermatology, ophthalmology, gastroenterology, and hematology, may also be necessary.

Severe epidermolysis bullosa can be life-threatening due to widespread blistering, infections, and loss of body fluid.

While these generalizations apply, it’s important to remember that each person who has epidermolysis bullosa is different. Generalizations cannot predict what will happen to one person.

Parents and other caregivers can help make life more comfortable for someone with epidermolysis bullosa by following these dermatologists’ tips.

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References

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Written by:
Paula Ludmann, MS

Reviewed by:
Jennifer Adams, MD, DTM&H, FAAD
Carla Torres-Zegarra, MD, FAAD

Last updated: 5/19/26