EPIDERMOLYSIS BULLOSA SIMPLEX
Hello, my name is ___________ and I will be telling you about Epidermolysis Bullosa Simplex. I will inform you of what it is, the causes and why it is important for me.
Epidermolysis Bullosa Simplex also known as EB is one of a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss occur in response to minor injury or friction, such as rubbing or scratching. . Most types of EB are inherited. The condition usually shows up in infancy or early childhood. There is no cure, though mild forms may improve with age. Treatment focuses on addressing the symptoms, such as infection and itching and preventing pain and wounds. Severe forms may cause serious complications and can be fatal. The exact prevalence of EB is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. I explained what it is, now let me tell you the causes.
Researchers have identified more than a dozen genes involved with skin formation that, if defective may cause a type of EB. The skin is made up of and outer layer and an underlying layer. The area where the layers meet is called the basement membrane zone. The type of EB you have is defined by where in these layers the blisters form. EB can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin. . Mutations in either the KRT5 or KRT14 gene prevent the keratin proteins from assembling into strong networks, causing cells in the epidermis to become fragile and easily damaged. As a result, the skin is less resistant to friction and minor trauma and blisters easily. There are several complications that could happen with having EB. Infection, Sepsis, Malnutrition and anemia, dehydration, constipation, eye...