Abstract

Epidermolysis bullosa is a genetically inherited disorder characterized by extreme skin fragility. Mutations in at least 20 different genes have been identified, leading to structural or functional abnormalities or the absence of proteins involved in the cytoskeleton, extracellular matrix, or intercellular adhesion within the skin. These molecular defects result in separation at various levels in the skin, forming the basis for the classification of epidermolysis bullosa into four major types: simplex, junctional, dystrophic epidermolysis bullosa, and Kindler syndrome. More than 30 clinically distinct subtypes are recognized within these main categories. Patients may develop various complications, including aggressive forms of skin cancer, especially in areas with long-term wounds. Even though epidermolysis bullosa is a very serious condition, modern treatments and a carefully tailored, team-based approach to patient care can help improve the comfort, health, and overall quality of life for those living with the disease.

Key words: epidermolysis bullosa hereditaria, genetic heterogeneity, phenotypic variants, complications, new treatment