H00586
H number H00586
Name Epidermolysis bullosa, junctional, including:
Epidermolysis bullosa, junctional, Herlitz type (JEB-H);
Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH);
Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
Description Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.
Category Skin and connective tissue disease