Catalog

Epidermolysis bullosa simplex, localised

No MMS code

Link to WHO Definition

Epidermolysis bullosa simplex, localised – http://id.who.int/icd/entity/786158619

Localised epidermolysis bullosa simplex (EBS-loc), formerly known as EBS Weber-Cockayne, is an autosomal dominant basal subtype of EBS due to mutations in the KRT5 and KRT14 genes encoding keratins 5 and 14 respectively. The disease is characterised by blisters occurring mainly on the palms and soles, exacerbated by warm weather.