Epidermolysis Bullosa (EB)

The symptoms of EB vary depending on the type, but can consist of: ^2,3

• Blisters that rupture, causing wounds that heal slowly
• Thickened skin on the palms of the hands and soles of the feet
• Rough, thickened, or absent fingernails or toenails
• Blisters inside the mouth
• Pain and itching

Complications associated with EB:

• Malnutrition
• Dehydration
• Constipation
• Dental problems

Most patients with EB are diagnosed early in life due to the clinical presentation. While clinical findings are enough to suspect a diagnosis of EB, to narrow down the type and even subtype of EB, more thorough testing is needed^1,5.

The two types of laboratory testing that can be done to determine the type of EB are immunofluorescence mapping and transmission electron microscopy. Using a removed section of skin, these two tests essentially create a visual representation of what is going on within the layers of the skin. Using these images can help a patient receive a proper diagnosis. ^1,5

Genetic testing can also be used to identify the specific gene that is involved. While it is the ideal test to identify the specific gene involved, it is also dependent on accessibility and can also take longer than the testing mentioned above. ^1,5

There is no cure for EB. Treatment focuses on wound care and managing EB related complications. The care team for EB patients is extensive and can consist of dermatologists, nurses, pediatricians, dieticians, psychologists, and physical and occupational therapists.⁶ The goals of treatment are to prevent and control symptoms by: ^4,7 

• Managing pain and itching
• Proper wound care
• Preventing and treating infection
• Maintaining good nutrition and hydration
• Protecting the skin

There are currently two FDA approved treatments for specific subtypes of EB. Both are topical treatments and aim to improve or accelerate wound healing. ^8,9