Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2018.1466339
Abstract: Lipoid proteinosis autosomal recessive multisystem disorder -was first described in 1929 by Urbach (dermatologist), and Wiethe (ear, nose, and throat specialist). Until date up to 300 cases have been reported in the English literature (1–4).… read more here.
Keywords: lipoid proteinosis; proteinosis; moniliform blepharosis; gene ... See more keywords
Evaluation of inflammatory parameters in lipoid proteinosis patients
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DOI: 10.1111/dth.14495
Abstract: Lipoid proteinosis (LP) is a rare metabolic storage disease characterized by the storage of hyaline‐like substances in the skin, mucosa, and many other organs. The aim of this study was to compare the neutrophil/lymphocyte ratio… read more here.
Keywords: inflammatory parameters; lipoid proteinosis; proteinosis; values patients ... See more keywords
Alveolar proteinosis - an underdiagnosed condition in young people.
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DOI: 10.15386/mpr-2227
Abstract: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by an abnormal intra-alveolar accumulation of surfactant derived lipoproteinaceous compounds, leading to dyspnea and, in severe cases, to respiratory failure. The most common form of… read more here.
Keywords: underdiagnosed condition; alveolar proteinosis; proteinosis underdiagnosed; proteinosis ... See more keywords