Inherited Epidermolysis Bullosa

Inherited Epidermolysis Bullosa is a group of rare genetic disorders that cause the skin to be very fragile and to blister easily. It primarily affects the skin and mucous membranes, which are the protective layers covering the body and inside the mouth and other organs. People with this condition often develop painful blisters and wounds from minor injuries or friction, even from normal activities like walking or touching. These blisters can lead to scarring, infections, and difficulty with daily activities. The condition can also affect the nails, hair, and internal organs in some types. It is caused by mutations in genes responsible for the proteins that hold skin layers together, making the skin prone to separation.

Inherited Epidermolysis Bullosa (EB) is a genetically heterogeneous group of disorders characterized by skin fragility and blister formation following minor mechanical trauma. The core pathology involves mutations in genes encoding structural proteins such as keratins, collagen VII, laminin-332, and integrins, which are essential for dermoepidermal adhesion. These mutations disrupt the integrity of the basement membrane zone, leading to cleavage at different skin layers depending on the EB subtype (simplex, junctional, dystrophic). Clinically, EB presents with recurrent blistering, erosions, and chronic wounds that can cause significant morbidity including scarring, pseudosyndactyly, and increased risk of squamous cell carcinoma in severe forms. The disease is inherited in autosomal dominant or recessive patterns depending on the subtype. Diagnosis and classification rely on clinical features, immunofluorescence mapping, and genetic testing.