Epidermolysis bullosa simplex: Clinical genetics

Epidermolysis bullosa (EB) is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Epidermolysis bullosa simplex (EBS) is one of the major forms of the disease. The signs and symptoms of this condition vary widely among affected individuals. Blistering may primarily affect the hands and feet in mild cases. In such cases, blisters usually heal without leaving scars. Severe cases of the disease involve widespread blistering that can lead to infections, dehydration and other medical problem. Researchers have identified four major types of epidermolysis bullosa simplex. They are caused by mutations in the same genes. Four type of EBS includes EBS-WC, EBS-K, EBS-MP and EBS-DM. The mildest form of EBS is EBS-WC. Mutation in the KRT14 and KRT5 genes are responsible for the four major types of EBS. These genes provide instructions for making protein called Keratin 5 and Keratin 14. These tough, fibrous protein works together to provide strength and resiliency to the outer layer of the skin. Mutations in either the KRT14 or KRT5 genes cause cells in the epiderm to become fragile and easily damaged. In this article, we will acquaint with this disease and the clinical diagnosis of each subtype.