Epidermolysis bullosa, commonly known as EB, is a rare, genetic and currently incurable disease.
The main characteristic of the condition is the extreme fragility of the skin. The skin is as fragile as a butterfly’s wing. The lightest touch can cause open wounds, blistering and peeling of the skin. Simple actions such as walking and eating can be extremely painful.
The European Reference Centre for EB estimates that 1 in 17000 births are affected by EB. In Spain there are between 500 and 700 people currently living with EB.
The proteins that make our skin resistant and strong are absent or not working correctly in people with EB. Informally we would describe this as skin that does not have the glue to keep it together. Depending on the missing protein type or incorrectly working protein Epidermolysis bullosa is divided into different types which all have different symptoms.
Patients require bandaging that can take up to 4 hours to complete. Treatment is generally required on a daily basis or every other day. Specialist materials and bandages are essential for these treatments, the severity of the wounds for some patients can often require bandaging the total surface area of the body.
The condition also affects other less visible areas of the body including the mucous membranes and tissues of the eyes, mouth, digestive tract, etc.
People with EB suffer from both external and internal pain. Food passing through the mouth and oesophagus can cause wounds and other medical complications affecting the correct functioning of the oesophagus. Many people with EB are required to follow specific diets of pureed food and nutritional supplements.
Other symptoms of the disease include anaemia, syndactyly (fusion of the fingers and toes), dysphagia (difficulty swallowing), malnutrition, constipation, osteoporosis, muscular dystrophy, cardiomyopathy, renal deficiency, and cancer amongst others.