Epidermolysis bullosa (EB) is a group of inherited disorders characterised by fragility and blistering of skin. Depending on which layer the blisters form in, EB is classified into four different types: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome.
Junctional epidermolysis bullosa (JEB) is caused by blister formation within the basement membrane and is further classified broadly into generalized JEB and localized JEB. JEB Herlitz type, also known as generalized severe JEB, falls under the generalized JEB subtype. The Herlitz type is severe with cutaneous, mucosal, and renal involvement. Life threatening secondary complications, including sepsis, electrolyte imbalance, and anemia limit the survival of infants with Herlitz type JEB to the first year of life in most cases. Herlitz type is caused by mutations in LAMC2, LAMB3 or LAMA3 genes.