Catalog

Acantholytic epidermolysis bullosa

No MMS code

Link to WHO Definition

Acantholytic epidermolysis bullosa – http://id.who.int/icd/entity/2082436712

A rare autosomal recessive form of suprabasal epidermolysis bullosa simplex due to mutations in the DSP (6p24) gene encoding desmoplakin, a protein essential for epidermal cohesion. It normally leads to premature death in the neonatal period.