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Essay Epidermolysis Bullosa

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Epidermolysis Bullosa also known as E.B. is generally an inherited connective tissue disease. This disease is evident at birth or soon there after. It causes large fluid filled blisters, in the skin and mucosal membranes. Chaffing or even increase in room temperature may cause these blisters to form. E.B. affects an estimated 50 in 1 million live births. The disease has been known to affect every racial and ethnic group and is found in both males and females all over the world. The disease has been seen in a wide variety of forms from mild to lethal form involving some organs. Epidermolysis Bullosa is the result of a mutation in the keratin or collagen gene. There are three layers of skin epidermis, dermis and the subcutaneous …show more content…

These are all very important in determining whether or not the patient has Epidermolysis Bullosa or if it is a different skin disease. Knowledge of family history is also key because E.B. is mostly inherited. The inheritance pattern may vary from dominant to recessive. The recessive form (meaning both parents transmit the gene to a child) tends to be worse. Although the dominant form means one parent carries the dominant gene enabling them to pass it on to their child. Diagnosing correctly must also take into account the symptoms. There are many complications that can happen with any one of the varieties of Epidermolysis Bullosa. The symptoms of a patient with Epidermolysis Bullosa may vary depending on the type of Epidermolysis Bullosa. The symptoms may include:
 Blistering of the skin, how severe depends on the type of Epidermolysis Bullosa.
 Deformity or loss of fingernails and toenails
 Internal blistering, including in the throat, esophagus, upper airway, stomach, intestines and urinary tract
 Skin thickening on palms and soles of the feet (hyperkeratosis)
 Scalp blistering, scarring and hair loss (scarring alopecia)
 Thin appearing skin (atrophic scarring)
 Tinny white skin bumps or pimples (milia)
 Dental abnormalities, such as tooth decay from poorly formed tooth enamel
 Excessive sweating
 Difficulty swallowing (dysphasia)
 Alopecia (hair loss)
 Respiratory

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