Epidermolysis Bullosa:
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What is Epidermolysis Bullosa?
Epidermolysis Bullosa, also known as EB, is an inherited genetic skin disease that causes the formations of blisters on any skin surface. The blisters can occur either through inflicted/ induced injuries, spontaneous break outs, heat, friction from rubbing and scratching. This disorder does not affect any specific race or ethnicity. There are four types of Epidermolysis Bullosa: Dystrophic epidermolysis bullosa, Epidermolysis bullosa simplex, Hemidesmosomal epidermolysis bullosa, Junctional epidermolysis bullosa. Scientist and doctors have found that each of these types of EB also contain sub types with in them. It is most commonly found in infants, but symptoms may occur later in one’s life making the disorder to be fatal.





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What are the symptoms?
  • Blistering of the skin (severity depends on widespread and type).
  • Hair loss.
  • Deformity of nails and toenails.
  • Internal blistering (throat, stomach, intestines, oesophagus).
  • Excessive sweating.
  • Trouble swallowing.
  • Dental deformity (tooth decay).
  • Acne (milia).
  • Breathing problems.




How does Epidermolysis Bullosa occur?
As said earlier, EB is inherited. Researchers have found around ten genes associated with Epidermolysis Bollusa. They also added that it is possible that a random gene mutation could have occurred during the formation of an egg and a sperm. Other researchers have claimed to have found the most common gene responsible for Epidermolysis Bullosa: COL7A1; otherwise known as collagen, type VII, alpha I. Collagen is a protein that strengthens skin and bones.
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What are the limitations of Epidermolysis Bullosa?
There are many limitations that come along with this disorder. EB prevents those who suffer from it to have a normal enjoyable life; no physical contact, no sunbathing, no sports. Those who are diagnosed with EB are under a very limited leisure list.

One World Factor: Social
As mentioned on a previous section, the disorder does not allow the patient suffering from EB to have a so called normal social life style. His or her routine is altered from those who have no diagnosis. The patients are forbidden to damage their skin any further by adding friction, absorbing heat, or having a simple show of affection such as a hug. Not only are they isolated physically but also emotionally. Being different may cause severe emotional stress and pain. Being diagnosed can affect a human being both physically and emotionally.
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One World Factor: Economic
In order to prevent Epidermolysis Bullosa, prior tests must be taken. Meaning that a genetic specialist would have to examine all your genes, this could cost one thousands and thousands of dollars. Once one has been diagnosed with Epidermolysis Bullosa, one must take care of themselves very carefully. The skin being affected the most, should be treated well; this ranges from simple skin care such as daily injections and lotions to surgery (skin grafting) to even physical therapy. Unfortunately there is no proper cure for EB, the most one can do is prevent excess outburst of blisters.


Bibliography:
Board, A.D.A.M. Editorial. "Causes, Incidence, and Risk Factors." Epidermolysis Bullosa. U.S. National Library of Medicine, 18 Nov. 0000. Web. 10 Mar. 2012. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002428/>.
"COL7A1." - Collagen, Type VII, Alpha 1. Web. 9 Mar. 2012. <http://ghr.nlm.nih.gov/gene/COL7A1>.
"Donate." About EB. Debra. Web. 10 Mar. 2012. <http://www.debra.org/abouteb>.
"Epidermolysis Bullosa." The Free Dictionary. Farlex. Web. 07 Mar. 2012. <http://www.thefreedictionary.com/Epidermolysis Bullosa>.
"Epidermolysis Bullosa." Q&A. July 2009. Web. 12 Mar. 2012. <http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp>.
"Health Guide." Epidermolysis Bullosa. NY Times. Web. 08 Mar. 2012. <http://health.nytimes.com/health/guides/disease/epidermolysis-bullosa/overview.html>.
Macnair, Trisha. "Epidermolysis Bullosa." BBC News. BBC. Web. 7 Mar. 2012. <http://www.bbc.co.uk/health/physical_health/conditions/epidermolysis1.shtml>.
Marinkovich, Peter. "Epidermolysis Bullosa." Mescape. Web. 09 Mar. 2012. <http://emedicine.medscape.com/article/1062939-overview>.
Staff, Mayo Clinic. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 27 Sept. 2011. Web. 9 Mar. 2012. <http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015>.