Epidermolysis Bullosa (EB) is a rare genetic disorder that affects the skin and mucous membranes. It is characterized by extreme skin fragility, causing the skin to blister and tear with minimal friction or trauma. This condition is caused by mutations in certain genes responsible for producing proteins that help anchor the layers of the skin together.
EB can range in severity from mild to severe, and symptoms can vary widely among individuals. The most common symptoms include blistering and open sores on the skin, as well as painful wounds that may become infected. In severe cases, internal organs may also be affected.
Living with EB can be challenging, as even simple activities like walking or eating can cause painful blisters. Treatment focuses on managing symptoms and preventing complications. This may involve careful wound care, pain management, infection prevention, and nutritional support.
Supportive care and a multidisciplinary approach involving dermatologists, wound care specialists, nutritionists, and other healthcare professionals are crucial in managing EB. Ongoing research aims to develop new treatments and improve the quality of life for individuals with this condition.