Epidermolysis Bullosa Letalis (EBL) is a rare, genetic, and severe form of epidermolysis bullosa (EB), which is a group of inherited skin disorders characterized by the fragility of the skin and mucous membranes. EBL specifically refers to the most severe and lethal form of EB.
EBL is caused by mutations in the genes responsible for the production of certain proteins that help anchor the layers of skin together. These mutations impair the integrity and strength of the skin, making it extremely fragile. Even the slightest friction or trauma can cause painful blisters to form on the skin and mucous membranes. In EBL, these blisters can be widespread, affecting large areas of the body, and can be life-threatening due to the risk of infection and fluid loss.
Symptoms of EBL typically manifest at birth or soon thereafter. In addition to blistering, affected infants may also experience severe scarring, skin erosions, difficulty swallowing, respiratory complications, and impaired growth and development.
Currently, there is no cure for EBL, and treatment mainly focuses on managing the symptoms and complications. This includes wound care to prevent infection and control pain, dressings to protect the skin, nutritional support, and respiratory interventions when necessary. The management of EBL requires a multidisciplinary approach involving dermatologists, pediatricians, geneticists, nurses, and other healthcare professionals.
Due to its severe nature and associated complications, EBL has a high mortality rate, and individuals affected by this condition often have a shortened lifespan.
