The Gene...

Genes related to Epidermolysis Bullosa Simplex [EBS]...

Mutations in the KRT5 and KRT14 genes are responsible for the 4 major types of Epidermolysis Bullosa Simplex. These genes provide instructions for making proteins — ‘keratin 5’ and ‘keratin 14’. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis).

Mutations in either the KRT5 or KRT14 gene make the epidermis cells fragile and easily damageable. As a result, the skin becomes less resistant to friction & minor trauma and blisters easily.

In rare cases of EBS, no mutation in the KRT5 or KRT14 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. Researchers continue to search for PLEC gene mutations in people with epidermolysis bullosa simplex. They are also working to determine how these mutations lead to the major features of the condition.