Epidermolysis bullosa treatment
Fact-checked by The treatment of epidermolysis bullosa (EB), a group of rare conditions characterized by fragile skin, is an individualized process that requires close communication among patients, caregivers, and clinicians.
Skin problems in EB are usually caused by genetic mutations affecting proteins that hold the skin together. People with the disease experience chronic blisters and open wounds that heal slowly and are prone to infection.
An EB treatment plan generally involves strategies to both prevent new wounds and help existing wounds heal. Managing EB symptoms may also require interventions to ease pain and address complications.
Treatment goals
EB requires multidisciplinary care from specialists such as dermatologists, dietitians, pain management experts, and wound experts. These healthcare providers will consider an individual’s symptoms, EB type, and the position of their wounds when making a treatment plan.
As there is no cure for EB, the goals of EB treatment are to:
- prevent new wounds
- promote the healing of blisters and wounds
- ease symptoms, including pain and itching
- prevent and manage complications, including infections
- maintain mobility and a good nutritional status
Working toward these goals from the time of EB diagnosis can improve a person’s quality of life and long-term prognosis.
There are three therapies approved to support wound healing in certain types of EB. There are also several ongoing EB clinical trials testing the efficacy of experimental treatments, and more medications may become available in the future.
Approved treatments
Three therapies are approved in the U.S. to treat EB wounds. All are administered directly onto open wounds to promote healing. These include:
- Filsuvez (birch triterpenes)
- Vyjuvek (beremagene geperpavec-svdt)
- Zevaskyn (prademagene zamikeracel)
Filsuvez is a gel that’s thought to reduce inflammation and promote skin cell growth. It’s indicated for treating relatively shallow wounds in people with dystrophic EB (DEB) and junctional EB, ages 6 months or older.
Vyjuvek is a gene therapy approved for people with DEB. It provides cells in the wounded area with functional copies of the COL7A1 gene, which is mutated in this disease type.
Zevaskyn is approved for people with recessive DEB. It involves engineering a patient’s own skin cells to carry a healthy version of COL7A1, then growing them into a thin sheet that is grafted onto a person’s wounds to promote healing.
Skin care and wound management
EB wound care involves careful cleaning, dressing, and monitoring of wounds. People with EB also need to take measures to protect their skin and prevent new wounds from forming.
Skin protection
Although it is difficult for people with EB to avoid blisters entirely, proper EB skin care can reduce the risk of wounds. Strategies for protecting skin in EB include:
- wearing loose-fitting clothes that don’t rub against the skin
- wearing clothes inside out to avoid contact with the seams
- minimizing sun exposure and wearing sunscreen
- keeping skin cool
- wearing protective bandages that don’t stick to the skin
For babies with EB, disposable diapers with Velcro fastenings may be less irritating to the skin than diapers with adhesive tapes.
Cleaning and dressing wounds
When wounds do occur, they are more likely to heal properly if they are clean and protected with appropriate bandages or other dressings. The process of a dressing change in EB usually involves:
- Removing the old dressing: This can be made less painful by soaking the wounds for five to 10 minutes.
- Cleaning the wound: The wound should be gently rinsed with a nontoxic cleanser such as saline or mild soap.
- Applying topical treatments: Approved topical treatments or other nonmedicated moisturizers and creams are placed on the wound. Antibiotic or antimicrobial ointments might also be applied to prevent infection.
- Dressing the wound: There may be a few layers of dressing applied, but the first one should always be nonadhesive, meaning it won’t stick to the skin and cause further injury. Additional padding may be used to further protect certain areas.
Dressings are often changed daily, but a doctor will determine which specific dressing type to use, how often it should be changed, and which topical treatments should be applied in each case.
They can also provide guidance on safely piercing and draining painful blisters before administering wound care.
Monitoring wounds
It is also important to regularly check wounds for signs of infection, which can delay healing and require medical attention. During each dressing change, patients and caregivers should look for:
- redness and swelling
- yellow or green drainage from the wound
- unusual warmth
- significant delays in healing
Fever or unusual tiredness could also be signs of infection. Any other unusual changes to wounds should also be reported to a healthcare provider.
Pain management
People with EB may experience various forms of acute and chronic pain, with one of the most common being pain during dressing changes. Wounds may also cause painful itching, or pruritus.
There is limited high-quality evidence on pain control in EB patients, and the specific treatment choice will depend on the type, location, and duration of the pain or itch. According to clinical guidelines, medications that may be used for EB pain management include:
- acetaminophen, e.g., Tylenol
- nonsteroidal anti-inflammatory drugs, such as aspirin or ibuprofen
- opioids
- gabapentin or pregabalin
- certain antidepressants or anti-anxiety medications
- antihistamines for pruritus
These may be taken orally, nasally, or injected into a vein, depending on the situation. Topical treatments, such as lidocaine or morphine, may also be applied directly to wounds. There are specialized topicals and rinses that can be used for blisters inside the mouth.
Opioids may need to be used with caution in EB, as they can sometimes exacerbate gastrointestinal problems and itchiness.
Nondrug approaches are recommended to ease pain, reduce disability, and improve coping skills across pain types. They include:
- cognitive behavioral therapy
- physical therapy
- relaxation techniques
At home, families can take measures to improve comfort during dressing changes. This includes:
- adding oatmeal or salt to bath water
- soaking dressings before removing them
- keeping the room warm
- distracting the child
- preparing materials ahead of time to reduce painful air exposure
Managing complications
There are a number of possible EB complications that may require unique prevention, monitoring, or treatment approaches.
- Infections: EB infection prevention involves careful monitoring and sterile wound care practices. Wounds should be carefully cleaned at dressing changes, and anyone caring for wounds should regularly wash their hands before and after doing so. Infections that do occur may be treated with antibiotics.
- Nutritional problems: Many people with EB experience nutritional problems or require extra nutrients to support wound healing. Doctors and dietitians can help develop an individualized EB nutrition plan. Softer foods may be easier for individuals who experience mouth or throat pain. In severe cases, a feeding tube may be needed.
- Anemia: Blood loss, inflammation, and other factors can contribute to anemia, or a lack of healthy red blood cells. Regular blood tests can help identify anemia promptly. Treatment, which may involve dietary changes or iron supplementation, can help promote wound healing and ease fatigue.
- Skin cancer: People with certain types of EB are at an increased risk of developing a type of skin cancer called squamous cell carcinoma. Regular monitoring can help identify and treat this complication as early as possible.
Some EB types also damage the mucous membranes lining internal organs, leading to issues such as kidney problems. Carefully monitoring and supportive treatment can help manage these issues.
Daily life and support
EB can affect physical function, emotional well-being, and quality of life, but there are strategies to ease some of these problems and support independence. EB daily care tips include:
- using adaptive or mobility equipment to help with daily activities
- using seat belt and steering wheel covers to reduce rubbing on the skin
- wearing specialized shoes, socks, and clothing to help reduce the risk of wounds
Counseling, therapy, and other forms of emotional support can also help improve the quality of life for EB patients, as well as caregivers, who also frequently experience emotional and practical burdens.
There are various resources available to provide support for EB caregivers and patients and make living with EB easier, including support groups, educational resources, and financial assistance programs.
Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
