What is Epidermolysis Bullosa?
Epidermolysis bullosa (EB) is a group of rare genetic conditions that affect one in every 50,000 children. Epidermolysis bullosa is hereditary, meaning that other family members may have the genes that cause it.
People with EB have extremely fragile skin that blisters and tears from friction or trauma. It can seriously affect internal organs as well, needing care from many different medical specialists. EB can happen in people of any gender and any racial or ethnic background. It is usually diagnosed at birth but can be diagnosed at any age.
Depending on the type and severity of EB, as well as a person’s genetics and symptoms, long-term outcomes and quality of life differ from person to person. With milder forms of EB, skin may blister on the hands and feet only and may not lead to scarring or loss of function. But in more severe forms, blistering may happen on the skin anywhere on the body and may include secondary injury to internal organs. This can result in disfigurement and/or disability, and can even be life-threatening. Children with this condition are sometimes referred to as “butterfly children” because their skin is as fragile as butterfly wings.
What are the Types of Epidermolysis Bullosa?
There are four major types of EB. Although each subtype has a specific genetic cause, there is a wide range of severity, even within each subtype. Each type ranges from mild to severe in terms of appearance, genetic makeup, the area of the skin where there is blistering, and how much other parts of the body are involved.
- Epidermolysis bullosa simplex – In mild cases, the blistering is mainly on the hands and feet with little or no scarring. Severe cases have more widespread blistering and other serious medical conditions like blisters in the mouth or throat.
- Junctional epidermolysis bullosa- The milder forms have limited blistering that often improves with age. Children may also have hair loss and abnormal toenails and fingernails. In older children and adults, there can be blisters in the lining of the mouth and digestive tract, making it hard to eat and digest food. Children are more likely to have growth and malnutrition issues. Severe cases may be fatal in infancy.
- Dystrophic epidermolysis bullosa –This is a scarring type of EB. In mild cases, blistering is primarily found on hands, feet, knees and elbows. Patients with more severe disease may have a variety of serious medical conditions including blisters in the lining of the mouth and digestive tract, poor growth and nutrition, and anemia. With the severe type, there is a higher risk of developing skin cancer as patients get older.
- Kindler syndrome – In addition to blistering, people with this type of EB have an increased sensitivity to sunlight.
How is Epidermolysis Bullosa Diagnosed?
Diagnosis of EB can be confirmed by skin biopsies (by sampling a small piece of skin) or with blood or saliva used for genetic testing. Genetic testing is the preferred diagnosis method.
What are the Symptoms of Epidermolysis Bullosa?
Symptoms vary depending on EB type and level of severity. All people with EB have fragile skin, and most blister easily.
Other problems can include:
- Trouble eating and swallowing
- Trouble gaining weight
- Anemia
- Problems breathing
- Nail loss or abnormalities
- Skin infections
- Scarring of the skin
- Difficulty walking due to scarring
- Difficulty with hand function due to scarring
- Skin cancer
How is Epidermolysis Bullosa Treated?
As of today, there is no cure for EB. But there are many treatments that can improve the quality of life for people with EB.
- Bandaging can help heal, prevent infections, and protect skin from injury.
- A healthy diet with extra calories and protein can help the skin heal.
- Physical and occupational therapy services can help prevent weakness and loss of function. Adaptations can help patients maintain as normal of a lifestyle as possible.
- Treatment of EB may require surgery. Examples can include:
- Placing a feeding tube into the stomach to improve overall nutrition, which helps with wound healing, growth and development
- Dilating (widening/opening) the esophagus if there is a narrowing that’s causing swallowing difficulties
- Surgical repair to improve hand and foot function
- Placing a breathing tube for severe respiratory problems
Clinical trials of new treatments, including gene therapy, are ongoing. Medications are another therapy for EB patients. The FDA has approved a treatment for dystrophic epidermolysis bullosa called Vyjuvek. Vyjuvek gel has to be applied by a healthcare professional, trained legal guardian, or adult patient once a week. Contact your primary care doctor or dermatologist for more information. For more information, visit the FDA website for Vyjuvek.
The FDA has approved Filsuvez as a treatment for patients with junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. It is a topical gel for patients six months old and older. It can be applied by parents or adult patients. Contact your primary care doctor or dermatologist for more information. For more information, visit the FDA website for Filsuvez.
What is the Outlook for People with Epidermolysis Bullosa?
The outlook for children with EB depends on the type and severity of their EB. Most children are able to attend school with appropriate adaptations. Those who have a mild form of EB may notice improvement with age. More serious forms of EB may result in a shortened lifespan.
While there is no cure for EB, there are several research groups around the world that are working on new treatments for EB. We work with these groups nationally and internationally.
Contact the Epidermolysis Bullosa (EB) Center
The Epidermolysis Bullosa (EB) Center at Cincinnati Children’s offers a comprehensive visit with input from many specialists. An integrated care plan is created and shared with you and your local providers regarding the medical recommendations from your visit.
Contact the Cincinnati Children’s EB Center at 513-636-2009 or ebcenter@cchmc.org for more information, to schedule an appointment, or to learn about participation in clinical trials.
