Guidelines

Inherited epidermolysis bullosa

Inherited epidermolysis bullosa (EB) is a wide and heterogeneous group of genetic disorders characterized by fragility of the skin, blister formation and abnormal wound healing.

Clinical manifestations range widely. EB may be present at birth or appear in early childhood or in adulthood. It can affect only the skin or mouth mucosal, esophagus, pharynx, larynx, eye, etc. Some subtypes are accompanied by alteration of hair, nails and teeth. Bullous lesions may heal without leaving any marks or scars.

The most serious form of EB are accompanied by extracutaneous complications such as congenital pyloric atresia, muscular dystrophy, infections, delayed growth, esophagus stenosis, early onset of skin cancer.

EB is inherited in either an autosomal dominant or autosomal recessive manner. Nowadays the genes responsible for each subtype of EB are all known and there is evidence that mutations in these genes cause the symptoms of the disease.

Related Documents