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A Life-Threatening Disease Causing Infants to Blister, Epidermolysis Bullosa

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A genetic disorder that affects an estimated 25,000-50,000 people in the United States and can be life threatening. This disease causes blisters on the skin but also in the mouth, esophagus, lungs and muscles. Though this disorder is not common it can be mild with little symptoms, disabling, where there are a few problems that may occur or it can be life threatening. This disease is called Epidermolysis Bullosa.
Epidermolysis Bullosa is a genetic disorder that causes the skin to blister even with the slightest force. Epidermolysis Bullosa is found in three different types. Each are caused by different genetic mutations. The most common form of Epidermolysis Bullosa (EB) is Epidermolysis Bullosa simplex (EBS). The less common types of EB
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The lives can be cut short if internal organs start to blister. Also those who have EB are more likely to have skin cancer than those without EB. Another way that life could be cut short is because EB can cause sepsis which is when bacteria is spread all over the body via blood stream.
There are three main types of EB. Each is caused by a different mutation. The most common type of EB is Epidermolysis Bullosa simplex (EBS). This variation is unlike the other two in the fact that it is autosomal dominant. The gene that is mutated is called keratin 14 or KRT14 for short. This gene in particular codes for keratins, a type of protein that forms skin, hair and nails. There are over 60 mutations that have been found in people living with EBS from this gene alone. Keratin 14 is located on chromosome 17.
A second type of this disorder is called Junctional Epidermolysis Bullosa (JEB). This is an autosomal recessive condition. Unlike EBS this variation of EB is more severe and causes more blistering and it is easier to blister. Mutations caused on the collagen 17 gene which is located on chromosome 10 along with laminin-5 which is located on chromosome 20. Just as there are different variations of EB there are two different forms of JEB. There are Herlitz and non-Herlitz. Herlitz is more severe and often can cause fingers and toes to fuse together. Herlitz JEB affects all the skin not just certain parts such as the knees, feet, hands and
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