Catalog

Epidermolysis bullosa simplex with pyloric atresia

No MMS code

Link to WHO Definition

Epidermolysis bullosa simplex with pyloric atresia – http://id.who.int/icd/entity/1648939146

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is an autosomal recessive basal subtype of EBS due to mutations in the PLEC gene encoding plectin. It is characterised by generalised severe blistering with widespread congenital absence of skin and pyloric atresia.