What is epidermolysis bullosa (EB)?

Epidermolysis bullosa (EB) is a rare genetic disease that causes painful skin blistering. EB can range from mild to severe. Some patients also develop blisters and sores inside the body, such as in the mouth or the lining of the esophagus (food pipe). It can also impact other internal organs.

The common symptom of all people with EB is that they have extremely fragile skin. The blisters can form in response to minor trauma, even to rubbing the skin, and can advance to become open, bleeding sores, prone to infection and in some cases scarring.

If your child develops blisters, especially with no clear cause, you should contact your pediatrician. Always seek immediate medical attention if your child has problems swallowing or breathing or shows signs of infection. 

Types of EB

Several types of EB have been identified. The type is determined by which layer of the skin affected.

• EB simplex causes blistering in the bottom part of the top layer of skin (the epidermis).
• Junctional EB causes blistering between the epidermis and dermis (the lower layer of the skin)
• Dystrophic EB causes blistering in the top layer of the lower layer of skin (the dermis).
• Kindler syndrome (affects all layers described above) 

Causes of epidermolysis bullosa

In most cases, epidermolysis bullosa is an inherited condition. In some forms, it is inherited from both parents (recessive inheritance), which means that both parents must be carriers of the gene for the disease to appear in a child, even though the parents themselves may have no symptoms. In other forms, the disease is inherited from one parent (dominant inheritance). 

A family history of epidermolysis bullosa – a parent, grandparent, aunt or uncle with the disease – increases the likelihood that a child will have it.

Signs and symptoms

Symptoms of epidermolysis bullosa usually appear soon after birth or in early childhood. They vary with the different types of the disease, and may include:

• Blisters on the skin, especially on the hands and feet
• Blisters inside the mouth
• Blisters on the scalp, with scarring and hair loss
• Thick or missing fingernails or toenails, or unusually shaped nails
• Thickened skin on the palms of the hands and soles of the feet
• Small white bumps on the skin
• Itchy, painful skin
• Skin that appears unusually thin
• Difficulty swallowing (caused by blisters in the mouth and throat)
• Constipation
• Hoarse-sounding crying (a sign of blistering and scarring on the vocal chords)
• Dental problems, including tooth decay, from poorly formed tooth enamel
• Slow growth

Symptoms may not appear until a child starts grabbing objects, crawling or walking, increasing the friction on the palms and soles of the feet. 

Complications

• Blistering can lead to infection of the affected area of skin and, if not treated, of the bloodstream (sepsis)
• Blistering in the mouth, throat, and digestive system can lead to poor nutrition, which, in turn, can reduce the body’s ability to heal the wounds from the disease and maintain a healthy rate of growth
• Blistering and chronic wounds on the hands and feet can lead to fingers and toes becoming fused together
• Blistering at joints can lead to abnormal bending of the fingers, toes, knees, and elbows
• Adolescents and adults with certain forms of the disease are at higher risk for developing skin cancer 

Testing and diagnosis

When a child shows signs of epidermolysis bullosa, your doctor will ask if there is any history of the disease in the family. Because most forms of the disease are inherited, any occurrence in the extended family raises the likelihood that the child’s symptoms are due to EB.

After examining the child and taking a family history, your doctor will discuss genetic testing to confirm the type of EB. Tests may include blood testing or in certain cases, a biopsy.  

Treatment for epidermolysis bullosa

Two localized gene therapies to treat EB have been approved for use by the Food and Drug Administration (FDA) and are offered at CHOP.  

Vyjuvek® is a topical gene therapy for dystrophic EB (DEB) approved for patients 6 months and older. A healthcare provider applies the gel directly to your child’s wounds once a week to improve wound closure and healing. It’s typically used for smaller wound areas.

Another gene therapy, ZEVASKYN™ has been approved to treat recessive dystrophic EB (RDEB) in pediatric patients. CHOP plans to be one of five sites in the U.S. to offer this groundbreaking treatment.

With this therapy, a corrected copy of the gene is introduced to a biopsy of your child’s skin cells. Those engineered cells are used to grow up to 12 credit card-sized “sheets” of skin that can be grafted over your child’s open wound to promote healing. Your child is monitored closely in the hospital for one to two weeks after the procedure to ensure the graft is accepted. This therapy is intended for larger wound areas on relatively flat surfaces of the body.  

Filsuvez® is another topical wound-care gel approved for patients 6 months and older, although it does not involve gene therapy. Filsuvez® is made of a birch bark extract and is applied to a wound to promote closure and healing.

Vyjuvek®, Filsuvez® and ZEVASKYN™ are treatments used to heal specific wounds. These gene therapies cannot “cure” or address the root cause of EB.  

Because of the nature of the disease and the many body systems it can impact, children with epidermolysis bullosa may need special support or treatment for a variety of different medical issues. Among the issues addressed in EB treatment are:

• Preventing blisters: The first line treatment for a child with EB is to minimize sources of friction on the skin that cause blistering. Your child’s medical team can advise on ways of holding, clothing, and diapering your child to help prevent blisters.
• Wound care: Even with the best preventive care, some blistering is inevitable. Expert wound care is critical for all patients with the disease. Special dressings and wound-care supplies may be needed, as contact with standard adhesives and dressings can cause friction and additional blistering.
• Chronic pain: Blistering and sores can be painful, so expert pain management is often an important part of the treatment plan.
• Infections: Antibiotics may be needed if wounds become infected.
• Gastrointestinal (GI) issues: Children with blistering and sores in the lining of the digestive system may need treatment for chronic constipation or diarrhea, nutrition and vitamin deficiencies, growth problems related to poor absorption of food, or for narrowing of the esophagus. Treatment may include changes in diet, vitamin and nutritional supplements, medication or the placement of a gastrostomy tube (G-tube).
• Anemia: Children with more severe cases of EB often suffer from chronic anemia due to iron deficiency, chronic disease, and blood loss from open wounds. Depending on the severity of the anemia and the cause, it may be treated with vitamins or supplements, diet, antibiotics or blood infusions.
• Emotional and psychological issues: Dealing with a chronic disease like epidermolysis bullosa can be stressful and at times overwhelming for children and their families. Psychologists can provide coping strategies for dealing with pain and stress.
• Physical therapy and occupational therapy: Because a child’s activities and range of motion may be restricted to prevent blistering, or because of the pain of blisters, therapy is often needed to help a child stay physically active and to maintain engagement in school and with friends.
• Surgery: In severe cases, surgery may be needed to correct problems caused by epidermolysis bullosa, such as GI strictures or fused fingers or toes.

At Children’s Hospital of Philadelphia, your child’s care is managed through the Epidermolysis Bullosa Multidisciplinary Clinic, where they can receive coordinated treatment from all the specialists they may need. Our experts are experienced at treating children with EB, and we have top-rated pediatric subspecialists on hand to provide focused treatment for whatever symptoms your child has. 

Outlook

There is currently no cure for EB. Until a cure is found, it is considered a lifelong condition. The outlook for children with EB varies depending on the type they have inherited.

Research is underway to better understand the causes of epidermolysis bullosa and seek new treatments and potential cures. CHOP has been involved in EB clinical trials for new topical therapies to help promote wound healing, beyond those already approved by the FDA.

Follow-up care

Lifelong medical support is needed for children and adults with EB. The nature and extent of that care will depend on the type and severity of the disease and the areas of the body affected by blistering. 

Why choose CHOP?

The Epidermolysis Bullosa Multidisciplinary Clinic at Children’s Hospital of Philadelphia brings together the many pediatric specialists needed to manage your child’s EB. 

Prepare for Your Visit

Our team has many years of experience providing specialized care for children with EB. We work closely with you and the rest of your child’s medical team to provide the best possible care in a timely, effective way. Your child is able to come to a single clinic to see the many different specialists who may be involved in their treatment.

These specialists include, but are not limited to:

• Dermatology and wound care
• Dental
• Gastroenterology and nutrition
• Pain management services
• Psychology
• Physical therapy and occupational therapy

Depending on the needs of your child and how close you live to the Hospital, additional specialists, including surgery, ophthalmology, cardiology, endocrinology, hematology and others may be scheduled on the same day, day prior or day after your child’s appointment with the EB Clinic.