Epidermolysis bullosa (EB) describes a group of rare skin disorders that lead to blistering of the skin and, sometimes, blistering inside the body. It occurs when a child inherits a faulty gene from one or both parents. Symptoms usually begin showing at a young age and range from mild to severe, depending on the type of genetic defect the child inherits.

‘Butterfly’ children

Children with EB have extremely fragile skin — so fragile that even gentle rubbing can break the skin and cause blisters. They have been called “butterfly” children because their skin seems as fragile as a butterfly’s wings.

The reason the skin is so fragile is because the defective gene that causes EB affects the way the skin develops. Skin is composed of several layers. The epidermis, or outermost layer, is separated from the dermis, the deeper layer situated under the epidermis, by a basement membrane. EB may affect any of these layers. Some types of EB affect keratin, the protein found on the surface of the skin that protects the epidermis from damage. Others affect the proteins that hold the epidermis and dermis together.

Defects in proteins in the skin make the skin fragile, easily injured, and prone to fluid-filled blisters.

How does EB affect children?

All types of EB lead to blistering with just gentle friction or rubbing. The open sores left when fluid-filled blisters burst can be painful and become infected, and the loss of fluid from large blisters can leave children dehydrated. When the wounds heal, the scar tissue that forms can cause deformities. Scars on the soles of the feet may affect mobility, and scarring on the hands may cause fingers to become fused together.

Nutrition can be an issue, particularly for children who have blisters inside the mouth and in the lining of the esophagus. Blisters in the mouth make it painful to eat, and scarring in the esophagus can affect how food moves to the stomach. Blisters may also develop on the vocal cords and in the upper airways.

Children who are born with the most severe form of EB usually do not live longer than five years.

How is epidermolysis bullosa treated?

There is currently no cure for EB, so the goal now is to prevent blisters and manage the symptoms and complications. Doctors may recommend medications to ease pain and inflammation (swelling), or prescribe antibiotics taken by mouth or applied to the skin to treat infections. Sometimes surgery is necessary; for example, a surgeon may separate fused fingers or widen the esophagus to improve the movement of food from the mouth to stomach.

Most of the care for children with EB takes place at home. Families learn how to pop blisters in the correct way and apply dressings to protect wounds and promote healing. Prevention measures include avoiding things that can aggravate the condition. For example, parents may use special bottle nipples, serve only soft foods, or put soft covers on car seats or hard surfaces to protect their child’s fragile skin.

Is there hope for new or improved treatments for EB?

Scientists have made great progress in their understanding of the cause of EB, identifying the various genetic defects and proteins involved. Research to find a cure for the disease is ongoing, and although no cure has been found yet, a number of clinical trials are exploring new treatments. Possibilities include cell-based therapies, protein replacement therapies (where proteins are injected into the skin to strengthen the layers), and gene therapy. Other strategies to improve quality of life aim to reduce inflammation and speed wound healing.

Note: Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Lupus News Today, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Lupus.