Learning About Epidermolysis Bullosa With Congenital Absence of Skin

Epidermolysis bullosa (EB) with congenital absence of skin is a very rare inherited skin condition. It is usually diagnosed at birth. Sometimes it’s also called Bart syndrome. It causes missing patches of skin on the lower legs, arms, or hands. It can also cause blisters (often on the hands, feet, or around the mouth) and damaged or missing fingernails or toenails.

Some babies born with the condition may also have changes to their facial features. They may have ears that aren’t fully developed, a flattened nose, and wide-set eyes.

EB with congenital absence of skin is a subtype of EB. People with EB have very fragile skin that blisters easily.

There are many different subtypes of EB. The four main types are:

• EB simplex. This type affects the outer layer of the skin. It’s the most common and least severe form of EB.
• Dystrophic EB. It affects the deeper layers of the skin. People with this type may have more severe blisters, wounds, and scarring.
• Junctional EB. It affects the connection (junction) between the outer and inner layers of the skin.
• Kindler EB (or Kindler syndrome). This is the rarest type of EB. It affects multiple layers of the skin.

People with EB with congenital absence of skin often have dystrophic EB. But they can have any of the other types as well. Even within the same type, there can be big differences in how severe symptoms are.

After birth, the doctor will treat the areas of the baby’s body that are missing skin with antibiotic ointment, wet gauze dressings, and bandages to prevent infection. In very rare cases where large areas of skin are missing, the doctor may consider doing a skin transplant. The missing patches of skin usually heal well within a few weeks or months.

While the missing skin often heals completely after birth, EB is a long-term condition. Throughout the course of life, treatment mostly focuses on avoiding skin damage and treating blisters and wounds to help them heal and to prevent infection.

For some types of EB, new treatments have been approved by the U.S. Food and Drug Administration. These include medicines that can help wounds heal and reduce pain. Ask your doctor if they'd recommend any of these treatments.

How EB affects daily life depends on how severe the condition is. In general, it’s important to:

• Protect fragile skin from friction and injury as much as possible. This may include wearing soft, loose-fitting clothes and shoes without scratchy tags or hard seams that can damage the skin.
• Avoid heat and humidity, which can make blisters worse.
• Eat a nutritious diet high in calories and protein to help the body repair damaged skin and heal wounds.
• Treat blisters and wounds right away to prevent infection. For some people living with EB, that might mean applying ointments and changing bandages daily.
• Work closely with your doctor to help manage symptoms and treat problems early before they get worse.

Living with EB or caring for someone who has the condition can be challenging. Getting support makes a big difference. Ask your doctor about resources available to you, like online support groups or resources in your community.