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• W2051788045 abstract "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. All types and subtypes of EB are rare; the overall incidence and prevalence of the disease within the United States is approximately 19 per one million live births and 8 per one million population, respectively. Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Each EB subtype is known to arise from mutations within the genes encoding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis. EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis. Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct whenever possible the extracutaneous complications. Prognosis varies considerably and is based on both EB subtype and the overall health of the patient." @default.
• W2051788045 created "2016-06-24" @default.
• W2051788045 creator A5042955290 @default.
• W2051788045 date "2010-05-28" @default.
• W2051788045 modified "2023-10-02" @default.
• W2051788045 title "Inherited epidermolysis bullosa" @default.
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• W2051788045 doi "https://doi.org/10.1186/1750-1172-5-12" @default.
• W2051788045 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2892432" @default.
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• W2051788045 hasPublicationYear "2010" @default.
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