Catalog

Epidermolysis bullosa simplex with muscular dystrophy

No MMS code

Link to WHO Definition

Epidermolysis bullosa simplex with muscular dystrophy – http://id.who.int/icd/entity/1570061817

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is an autosomal recessive basal subtype of EBS due to mutations the PLEC gene encoding plectin. It is characterised by generalised blistering associated with muscular dystrophy.

Parents

Autosomal recessive basal epidermolysis bullosa simplex
8C70 Muscular dystrophy