Catalog

Autosomal recessive epidermolysis bullosa simplex due to BP230 deficiency

No MMS code

Link to WHO Definition

Autosomal recessive epidermolysis bullosa simplex due to BP230 deficiency – http://id.who.int/icd/entity/1762624893

A mild autosomal recessive form of EBS due mutations in the DST gene which result in an absence of bullous pemphigoid antigen-1 (BP230) in basal keratinocytes.