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|Type:||Artigo de periódico|
|Title:||Lipoid Proteinosis And Otolaryngology [lipoproteinoses E Otorrinolaringologia]|
De Carvalho G.M.
|Abstract:||Lipoproteinosis is an autossomal recessive disease characterized by the deposition of diffuse hyaline material in skin, mucous membranes, blood vessels and other organs. It is caused by mutations in a gene encoding a glycoprotein of the extracellular matrix (ECM1), and different mutations may lead to the distinct epithelial changes. The disease has a chronic and benign course, and the main changes observed are: skin lesions of early presentation and varied aspects, blepharosis, intracranial calcifications with neuropsychiatric manifestations, symptoms of heartburn and fullness associated with nodules around gastrointestinal tract. The main otorhinolaryngological manifestation is dysphonia, which usually begins early in life, may present irregularities on the surface of the vocal cords and thickening of the interarytenoid region. The diagnosis is made by clinic associated with the classic findings of biopsy or by mapping the gene ECM1. Treatment is directed to the signs and symptoms of the affected organs, and the main impact of the disease is in the quality of life for its esthetic and functional damage. This article proposes a review of the literature, based on detailed description of four clinical cases, focusing on otorhinolaryngological manifestations.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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