A Rare kind of EBS

In rare cases of Epidermolysis Bullosa Simplex (EBS), no KRT5 or KRT14 gene mutations have been identified. Mutations in another gene — ‘PLEC’ — have been associated with the uncommon ‘Ogna type’ of the condition. The PLEC gene provides instructions for making a protein called ‘Plectin’ which helps the ‘Epidermis’ to attach with the underlying layers of skin.

Research is going in the search of PLEC gene mutations in people with EBS. Researchers are also working on how these mutations lead to the major features of Epidermolysis Bullosa Simplex [EBS].