Hereditary Bullous Diseases

Hereditary bullous diseases are caused by mutations in a variety of structural proteins that provide adhesion of skin layers and structural integrity of the skin. If adhesion structures are damaged, the fragility of the epithelium leads to the formation of blisters on the skin and mucous membranes. These disorders are clinically and genetically very heterogeneous, comprising phenotypes ranging from mild cutaneous fragility and mild blistering to severe cutaneous and extracutaneous involvement. Among hereditary bullous disorders, epidermolysis bullosa represents the most common disorder and is characterized by mucocutaneous fragility and blistering in response to minimal trauma or friction. In addition, these disorders also include Hailey–Hailey disease, a rare genodermatosis clinically characterized by flaccid blisters and erosions in the intertriginous areas.