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Created with Fabric.js 1.4.5 Junctional Epidermolysis Bullosa (JEB) is a particularly rare anddeadly form of the genetic disease Epidermolysis Bullosa (EB).This disease is caused by the mutation of one of 18 genes responsiblefor the production of proteins located in the junction between the epidermis and dermis. Symptoms include fragile skin which blisterseasily and can be severe enough to be fatal in infants.Figure 2 shows an infant with painful blisters caused by JEB.JEB is autosomal recessive and can only be inherited by parents. Over the course of 5 years (2007-2011), 71 patients were diagnosed with JEB in the United States. Of those 71 cases, 52 were fatal. This gives JEB a mortality rate of .The number of cases reported from 2007 to 2011 vs the number of surviving infants as ofJune 30th, 2012 can be seen in Figure 3 below. Cases Surviving as of June 30th, 2012 Junctional Epidermolysis Bullosa Incidence and Survival 73% Overvie w Methods Each case of JEB was recorded by the DebRAnurse educator. These reports were supplied by healthcare providers caring for the affected patients born in the United Statesbetween January 2007 and December 2011.The number of infants diagnosed in the USper region can be visualized in Figure 1. Discussio n With a mortality rate at 73% and average life span of about 5 months, this disease is extremely deadly and underrepresented.The data collected is possibly more severe considering some families may have not reported their affected child. This data reflects the severity of these diseases and the need for funding to create a possible cure or even improving the quality oflife for the patients. Current treatments only involve the treatments of wounds created by the disease. Possible future treatements could include gene therapy, protein therapy, and various types of stem cell transplantation. 20 15 10 5 Figure 3. Incidence and Survival Rate of Infants with JEB Born in the United States Between January 2007 and December 2011. 0 Figure 1. Cases of JEB according to region in the United States (20072011). 2007 2008 2009 2010 2011 Results Junctional Epidermolysis Bullosa. Digital image. Medical Pictures Info. N.p., n.d. Web. 10 Nov. 2014. <> . Kelly-Mancuso, G., Kopelan, B., Azizkhan, R. G. and Lucky, A. W. (2014), Junctional Epidermolysis Bullosa Incidence and Survival: 5-Year Experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) Nurse Educator, 2007 to 2011. Pediatric Dermatology, 31: 159162. doi: 10.1111/pde.12157 Observed Cases Reported Figure 2. Infant showing symptomsof JEB. 0 5 10 15 20 2007 2008 2009 2010 2011 Andrew Boser
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