Epidermolysis Bullosa: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
Epidermolysis bullosa (EB) consists of a rare group of genetically determined skin fragility disorders, categorized by blistering skin and mucosa in response to little or no apparent trauma, with some forms leading to substantial morbidity and increased mortality<ref name="1">Sarkar R, Bansal S, Garg V. Epidermolysis bullosa: Where do we stand? Indian Journal of Dermatology, Venereology and Leprology 2011 Jul;77(4):431-8.</ref>. The fragility of skin and mucosa within this disease is due to defects in structural proteins within the epidermis, specifically at the epidermal-dermal junction, that cause a deficiency of cellular structures that normally stabilize the adhesion of the epidermis. These, in turn, result from abnormalities in the genes encoding various proteins that define EB into specific categories<ref name="2">Mitsuhashi Y, Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Arch Dermatol Res 2003 04;295:S29-33.</ref>. Accordingly, EB has been classified into three major different subtypes based on mode of inheritance, location of lesions, and clinical features which include the following three major forms: EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB)<ref name="1" />. These three different subtypes are based on the level of blistering of the skin, although the classification of EB continues to evolve with recognition of up to 30 clinical subtypes<ref name="2" />. <br> | |||
== Prevalence == | == Prevalence == | ||
Revision as of 15:33, 8 April 2016
Original Editors - Cody Mumaw and Rachel Kirchgessner from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Rachel Kirchgessner, Cody Mumaw, Elaine Lonnemann, 127.0.0.1, WikiSysop, Lucinda hampton, Evan Thomas and Kim Jackson
Definition/Description[edit | edit source]
Epidermolysis bullosa (EB) consists of a rare group of genetically determined skin fragility disorders, categorized by blistering skin and mucosa in response to little or no apparent trauma, with some forms leading to substantial morbidity and increased mortalityCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. The fragility of skin and mucosa within this disease is due to defects in structural proteins within the epidermis, specifically at the epidermal-dermal junction, that cause a deficiency of cellular structures that normally stabilize the adhesion of the epidermis. These, in turn, result from abnormalities in the genes encoding various proteins that define EB into specific categoriesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. Accordingly, EB has been classified into three major different subtypes based on mode of inheritance, location of lesions, and clinical features which include the following three major forms: EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB)Cite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title. These three different subtypes are based on the level of blistering of the skin, although the classification of EB continues to evolve with recognition of up to 30 clinical subtypesCite error: Invalid <ref> tag; name cannot be a simple integer. Use a descriptive title.
Prevalence[edit | edit source]
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Characteristics/Clinical Presentation[edit | edit source]
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Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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