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Epidermolysis Bullosa - Research Paper Example

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Epidermolysis bullosa Name University Epidermolysis bullosa Part One Epidermolysis bullosa (EB) is an inherited disorder of the epithelial layer or surface tissue of the skin which leads to recurrent blisters and erosions in the affected individual. Even a minor case of injury or strain will lead to damage of the cell structure and tissues…
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Epidermolysis Bullosa Research Paper
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Download file to see previous pages The earliest evidence of bullous skin disorders of genetic type are found to be mentioned by Hebra, Fox and Goldsheider (Lin & Carter 1992). Koebner was the first person who coined the term epidermolysis bullosa hereditaria in 1886. He used the term to describe and elaborate a set of family generations that have been showing the skin blistering and erosions for many years. The term hereditaria described its hereditary origin, bullosa for the blistering manifestation and epidermolysis for the lysis of the epidermis layer of skin. Hallopeau was the second person who analyzed two different forms of the disease; epidermolysis bullosa simplex (EBS) and dystrophic epidermolysis bullosa (DEB). He described that the simplex form was caused by the blistering lesions only in the epithelial layer of the skin and they do not leave a scar mark. The dystrophic variant occurred in the sub-epithelial layer of the skin and was scarring in nature (Keefe 2008). Until 1935, they were thought to be the only two types of EB. However, in 1935 Herlitz put forward another variant which was more severe in its manifestations and had poor prognosis. This variant was termed as EB letalis. Junctional EB (JEB) was another name given to this type and is more commonly used. The rationale for using this term was that it affected the junction between the cell membrane and the basement membrane. In the 20th century proper classification was put forward on the basis of clinical manifestations of every type. In 1991, the molecular genetics of the EBS were found to be caused by the mutations in the keratin 5 and keratin 14 genes. Electron microscopy advancements made it possible to describe the JEB, DBS and EBS at an ultra structural level and understand the histopathology of the disease (Keefe 2008). Currently four major types of EB have been established; EB simplex, junctional EB, dystrophic EB and Kindler syndrome. EB simplex is described by its intra-epidermal erosions and blisters. Two further sub-types of EBS include localizes EBS and generalized EBS. An important type of generalized EBS is EBS-Dowling Meara which leads to death in the infant years of life. Other types include EBS with mottles pigmentation, EBS with muscular dystrophy, EBS-Ogna and autosomal recessive EBS. The junctional EB and dystrophic EB are characterized by erosions and lesions in the lamina lucida and sub-lamina densa, respectively. A severe form of JEB is termed as JEB-Herlitz and involves all the skin surfaces of body. Inverse JEB, non-Herlitz JEB, LOC syndrome and JEB with pyloric atresia are some other clinical sub-types of JEB. Two major sub-types of DEB arete dominant and recessive dystrophic EB. JEB of all the sub-types has the poorest prognosis and leads to death during the early years of life. DEB and EBS patients have a comparatively good prognosis and have a normal life expectancy (Fine 2010). EB dystrophica is one of the most severe forms of the EB four types. The alternate names used for this condition are dermolytic EB and dystrophic EB. The individuals suffering from this type have very delicate skin and it can tear off as a result of even mild trauma or friction. They present with blisters and erosions which associated with intense pain and generalized pruritis. The erosions are mostly scarring and heal with an atrophic scar. Nails are also affected and ...Download file to see next pagesRead More
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