Epidermis: A Genetic Disease

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There are thousands of different genetic diseases that affect millions of people in our own nation and across the globe. Many of these diseases can be difficult to diagnose, having spectrums of different symptoms and characterizations, while some are relatively mild in their effects. One disease affecting around 50,000 people in the United States alone is called epidermolysis. This debilitating genetic disorder affects the epidermis, or skin, of those diagnosed. Although this disease was written about in the early 1800’s, we only found the specific gene affected in 1993. It’s time to shed some truth on a rarely discussed genetic disorder carrying many stereotypes and nicknames across the globe, epidermolysis. What is Epidermolysis?…show more content…
Many other genetic disorders typically affect a particular group because of the genes affected, however, epidermolysis is not bias toward any specific gender, age, or race. There is a nickname that has been given to many of those who were affected by the disease, “butterfly children”. The fragileness of the children’s’ skin is often comparable with the gentle and thin wings of a butterfly. Why is the nickname not “butterfly adults”, you may ask? This can be explained by the life expectancy given to those diagnosed with the…show more content…
This lack of protein is caused by a mutation in the gene which is where the mentioned variations of the disorder come in. The first type is autosomal dominant where the gene is taken from only one parent. There is then autosomal recessive where the gene is taken from both parents. However these are not the only types. A protein called keratin can be affected by a mutated gene from one parent creating the symptoms of the disease in a type called epidermolysis simplex. The same can happen when inherited from two parents in which they label junctional epidermolysis. The debate and misconception comes with the idea that this is not only a genetic disorder, but an immune disorder a well. This creates a controversy over whether it is preventable; however, it is luck of the draw when it comes to the one we are focusing on today, the genetic type. Often people that carry the gene resist the want to have offspring simply because they know the risks and effects of the crippling disease. We previously talked about the most common and broad symptom which is used crossed the board to determine the disorder, the peeling of the outermost layer of skin at the slightest touch, however, there are other and more fatal symptoms that many fail to consider. There are the outwardly noticeable symptoms of epidermolysis such as the most obvious blistering and
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