Epidermolysis Bullosa Research Paper

Genetics has always been a science grounded on a natural human curiosity; as has medicine. These are two subjects bold enough to question why organisms are what they are. One could even say that perhaps science is the offspring of philosophy; man had a question and demanded an answer, so he discovered it himself. These answers, however, were not obtained without immense sacrifice, for time has required a heavy libation. For years, the substantial secrets have slowly seeped from time’s hands in small modicums of information. Though such an exchange is indeed far from equivalent; despite all the time it’s taken, we are the benefactors of this compromise. With this enlightenment, we’ve been able to save countless lives and improve our world for

the better! But, there is still much more knowledge to obtain, and to begin that process in which data is achieved we have to study that which we do not fully understand. Medicine and genetics both want greatly in full comprehension, so to start patching the holes one should gaze toward the diseases and disorders that plague the human body. One such disorder is Epidermolysis Bullosa. By collectively converging what we know about this chromosomal mutation into one homogenous mixture, we can hopefully go from getting the gist to understanding the germane.
Epidermolysis Bullosa is a small cluster of genetically inherited autosomal skin disorders that are delineated by blisters that form in layers of the skin just from basal handling or touch (Gale).

The blisters are fluid filled lesions that can range from being minor annoyances to being agonizing with no real affiliation to how much trauma or pressure was applied to the skin (Chang, Hawley and Katz). The disorder is usually diagnosed at birth when a newborn patient demonstrates symptoms, but can also appear later in a person’s life; the later appearance usually occurs internally and can be extremely serious and fatal. Though there is no cure for this surprisingly debilitating disease, treatment is centered on prevention of infection of the blisters this disease is infamous for

(Gale).
Descriptively, Epidermolysis Bullosa has at least sixteen different forms in which it is expressed; the three most significant being Epidermolysis Bullosa Simplex, Junctional Epidermolysis Bullosa, and Dystrophic Epidermolysis Bullosa (Gale).

Simplex is the most common form and also the least serious, but Junctional Epidermolysis Bullosa and Dystrophic Epidermolysis Bullosa affect the patient far more severely (Stanford School of Medicine). Doctors form the diagnosis based upon the location within the skin that the blisters form, in relation to the deepest layer of the skin (dermis) and the most superficial layer (epidermis) (Gale). The most common symptoms of Epidermolysis Bullosa include the following: blisters on the skin that commonly first form during infancy, sores or contusions on the mucous membranes of the body, thickened or an absence of toenails and fingernails, thickening of skin on the soles of the body, and even anemia (Stanford School of

Medicine).
Inheritance of Epidermolysis Bullosa is either the consequence of a dominant genetic irregularity, in which only one parent possesses the defective gene, or a recessive genetic irregularity, in which both parents possess the defective gene. The Epidermolysis Bullosa Simplex archetype is induced by disparities in the genes that form the proteins Keratin 14 and Keratin 5. These two proteins are vital for the proper formation of the epidermis; in the case of Epidermolysis Bullosa Simplex, the irregular genes are inherited in an autosomal dominant pattern. The expression of the other two forms is somewhat different; Dystrophic Epidermolysis Bullosa is caused by a completely different mutation in completely different genes; the genes that hold the instructions for the production of Collagen VII. This protein is culpable for tethering the epidermis to the more abysmal skin beneath. Dystrophic Epidermolysis Bullosa is