Contributor: Gordon K. Klintworth
Epidemolysis bullosa letalis (Herlitz-Pearson type of epidermolysis bullosa, junctional epidermolysis bullosa Herlitz type, MIM # 226700) is an infantile lethal type of epidermolysis bullosa. Occasioinal affected individuals survive into the teens. This inherited disorder has an autosomal recessive mode of inheritance. Vesicles form at the lamina lucida of the epidermis in this type of junctional epidermolysis bullosa [epidermolysis bullosa - junctional]. The lesions heal without residua or atrophic scars. The basic defect is a mutation in one of the genes (LAMA3, LAMB3, or LAMC2) that encode for the polypeptides in laminin-5. This type of junctional epidermolysis bullosa needs to differentiated from non-Herlitz junctional epidermolysis bullosa [epidermolysis bullosa - junctional non-Hertz type].