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 the genes that cause it may be are present in other family members.

People with EB have extremely fragile skin that blisters and tears from friction or trauma. It can seriously affect internal organs as well, requiring care from many different medical specialists. EB occurs in both genders and every racial and ethnic background. It is usually diagnosed at birth but can be diagnosed at any age.

Depending on the type of EB, as well as genetics, the symptoms, severity, 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. However, in more severe forms, blistering may occur on the skin anywhere on the body and may include secondary injury to internal organs. This can result in disfigurement, 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 a butterfly’s wings.

Epidermolysis Bullosa Types

There are four major types of EB. Although each subtype has a specific genetic cause, there is a wide range of severity, even within subtype. Each type differs 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 such as 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, the blistering is primarily found on hands, feet, knees and elbows. Patients with more severe disease may experience 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, these individuals have an increased sensitivity to sunlight.

Diagnosis

Diagnosis of EB can be confirmed by skin biopsies (sampling a small piece of skin) or with blood or saliva used for genetic testing. Genetic testing is the preferred diagnosis method.

Symptoms

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

Treatment

As of today, there is no cure for EB. There are, however, a lot of treatments that can improve the quality of life for people with EB.

• Bandaging can help healing, prevent infections, and protect skin from injury.
• A healthy diet consisting of extra calories and protein can help the skin heal.
• Physical and occupational therapy services are used to help prevent weakness and loss of function. Adaptations are suggested to help maintain as normal a lifestyle as possible
• Treatment of EB may require surgery. Examples can include:
• Placement of a feeding tube into the stomach that can improve overall nutrition, which helps with wound healing, growth and development.
• Dilation (widening / opening) of the esophagus if there is a narrowing causing swallowing difficulties.
• Surgical repair to improve hand and foot function.
• Placement of a breathing tube for severe respiratory problems.
• Clinical trials of new treatments, including gene therapy, are now ongoing: contact our EB center for details if you would be interested in participating.

The FDA approved a treatment for DDEB and RDEB called Vyjuvek, on May 19, 2023. The Vyjuvek gel has to be applied by a healthcare professional once a week. Please contact your local PCP or dermatologist for more information. This medication is not a cure, but another therapy option for EB patients. For detailed information, please visit the FDA website for Vyjuvek.

Outlook

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. Our goal is to provide the best quality of life possible for all of our patients.

Contact the Epidermolysis Bullosa (EB) Center

The 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.

Please contact the Cincinnati Children's Epidermolysis Bullosa (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.