Epidermolysis Bullosa Simplex is a skin condition that is part of a larger group of skin disorders called epidermolysis bullosa. This disease results from the mutations of genes encoding keratin 5 or keratin 14. It is inherited in a dominant fashion. Symptoms are:
• Formation of blisters at the dermoepidermal junction
• Patches of skin loss
• Blistering in hands and feet that may lead to infections in severe cases
There are many subtypes of Epidermolysis Bullosa Simplex
HOW IS EPIDERMOLYSIS BULLOSA SIMPLEX DIAGNOSED?
Your doctor may suspect epidermolysis bullosa from the appearance of the skin. But laboratory tests are needed to confirm the diagnosis which is Skin biopsy for immunofluorescent mapping, genetic testing and prenatal testing.
HOW IS EPIDERMOLYSIS BULLOSA SIMPLEX TREATED?
Treatment for Epidermolysis Bullosa Simplex has not yet been found. Maintaining hygiene of the affected areas may help in preventing progression of the disease to some extent
DID YOU KNOW?
Some intensive studies that include Bone marrow transplantation are under investigation and could be a breakthrough in this treatment.