Catalog

Epidermolysis bullosa simplex with mottled pigmentation

No MMS code

Link to WHO Definition

Epidermolysis bullosa simplex with mottled pigmentation – http://id.who.int/icd/entity/1688797966

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant basal subtype of EBS due to mutations in the KRT5 gene which encodes keratin 5. It is characterised by generalised blistering with mottled or reticulate brown pigmentation.