Catalog

Epidermolysis bullosa simplex, Ogna

No MMS code

Link to WHO Definition

Epidermolysis bullosa simplex, Ogna – http://id.who.int/icd/entity/1396318836

Epidermolysis bullosa simplex, Ogna type (EBS-Og) is a basal subtype of epidermolysis bullosa simplex characterised by sometimes widespread but primarily acral blistering. It is due to mutations in the PLEC gene which encodes the protein plectin.

Parents