Contributor: Gordon K. Klintworth
Junctional epidermolysis bullosa is one of the main varieties of epidermolysis bullosa. It is associated with a cleavage in the epidermis at the level of the lamina lucida of the basement membrane in association with variable abnormalities in hemidesmosomes and anchoring filaments. This genetically heterogeneous disorder is caused by mutations in the LAMA3, LAMB3, LAMC2, ITGA6, ITGB4 and COL17A1 genes. Ocular manifestations include blepharitis, corneal erosions, ectropion, symblephara, and lacrimal duct obstruction. Junctional epidermolysis bullosa is divided into two types Herlitz junctional epidermolysis bullosa [epidermolysis bullosa - junctional Herlitz type] and non-Herlitz junctional epidermolysis bullosa [epidermolysis bullosa - junctional non-Herlitz type].