Catalog

Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency

No MMS code

Link to WHO Definition

Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency – http://id.who.int/icd/entity/1267488538

This autosomal recessive basal subtype of epidermolysis bullosa simplex (EBS-AR exophilin 5) is due to an absence of exophilin 5 in basal keratinocytes resulting from mutations in the EXOH5 gene. It is characterised by generalised blistering and crusting with mild mottled pigmentary changes.