Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation
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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
Lipoid proteinosis: towards predictive clinical clues
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DOI: 10.1111/ced.13312
Abstract: cies in clinical findings. In addition, the spectroscopic methods possess poor selectivity, especially in a complex matrix such as serum or plasma. In a number of research works, the mixture of derivatization samples was separated… read more here.
Keywords: lipoid proteinosis; predictive clinical; clinical clues; towards predictive ... 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
Lipoid Proteinosis: A Systematic Presentation of an Unusual Disease.
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DOI: 10.1111/jocd.14861
Abstract: BACKGROUND Lipoid Proteinosis (LP) or Hyalinosis Cutis et Mucosae or Urbach-Wiethe disease is a rare autosomal recessive genodermatosis characterized by an amorphous hyaline material deposition in the skin mucosa and viscera. The clinical symptoms of… read more here.
Keywords: lipoid proteinosis; systematic presentation; disease; proteinosis systematic ... See more keywords
Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families
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DOI: 10.1111/pde.15105
Abstract: Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss‐of‐function pathogenic variants in the extracellular matrix protein‐1 (ECM1) gene. The typical clinical manifestations of LP include hoarseness of voice, beaded… read more here.
Keywords: pathogenic variants; lipoid proteinosis; novel ecm1; proteinosis novel ... See more keywords
Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis).
Sign Up to like & getrecommendations! Published in 2019 at "Arquivos brasileiros de oftalmologia"
DOI: 10.5935/0004-2749.20190051
Abstract: A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment… read more here.
Keywords: urbach wiethe; syndrome lipoid; wiethe syndrome; lipoid proteinosis ... See more keywords