epidermolyysi

Epidermolysis bullosa, often abbreviated as EB, is a group of rare genetic blistering skin disorders. These conditions are characterized by the development of blisters and sores on the skin in response to minor friction or trauma. The severity of EB can range from very mild to severe and life-threatening, depending on the specific genetic mutation and the layer of the skin affected.

The underlying cause of EB is a defect in the genes that code for proteins responsible for anchoring the different layers of the epidermis and dermis together. When these proteins are missing or faulty, the skin layers separate easily, leading to blister formation. There are several main types of EB, classified by the depth at which the separation occurs within the skin, such as junctional, dystrophic, and simplex.

Symptoms typically appear soon after birth, though some milder forms may not be diagnosed until later in childhood or adulthood. In addition to skin blistering, individuals with EB may experience blistering on mucous membranes, such as in the mouth and esophagus, which can cause difficulties with eating and breathing. Scarring, contractures, and an increased risk of skin cancer are also potential complications of severe EB. Diagnosis is usually made through a skin biopsy and genetic testing. Currently, there is no cure for EB, and treatment focuses on wound care, pain management, and preventing further injury.