Results 1 to 10 of about 1,553 (193)
, 2008 OBJETIVO: Apresentar as características clínicas, tratamento cirúrgico e achado histológico de um caso de lipoidoproteinose. DESCRIÇÃO DO CASO: Criança do sexo masculino, cinco anos de idade, branco, que procurou atendimento odontológico na Universidade.
BRESAOLA, Marco Dapieve +6 more
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Int J Clin Pediatr Dent, 2016 Lipoid proteinosis (LP) is an uncommon, autosomal, recessively inherited disorder. It is typically characterized by hoarseness from early infancy, together with various cutaneous manifestations such as waxy papules, acneiform scarring, and eyelid beading.
Mittal HC, Yadav S, Malik S, Singh G.
europepmc +7 more sources
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the
Diagnostic Pathology, 2011 Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the ECM1 gene located on chromosome ...
Naeem Muhammad +5 more
doaj +2 more sources
Brain imaging findings in lipoid proteinosis (Urbach-Wiethe disease). [PDF]
Radiol Case RepWe present neuroimaging and skin findings of Urbach-Wiethe disease (lipoid proteinosis) in 2 adult patients. Lipoid proteinosis is a rare, autosomal recessive disease that primarily affects the skin, the upper respiratory tract, and the central nervous ...
Tsochatzis A +5 more
europepmc +2 more sources
Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis. [PDF]
Clin Cosmet Investig Dermatol, 2023 Mengjun Xu, Jiong Zhou, Jianliang Yan, Jianyou Wang Department of Dermatology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, People’s Republic of ChinaCorrespondence: Jianyou Wang, Department of Dermatology, Second ...
Xu M, Zhou J, Yan J, Wang J.
europepmc +2 more sources
Esophageal Aperistalsis in a Patient with Lipoid Proteinosis. [PDF]
Middle East J Dig Dis, 2018 Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A
Afshar B +3 more
europepmc +2 more sources
Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations-A case report. [PDF]
Clin Case RepWaxy facial skin appearance with multiple atrophic ill‐defined, superficial scars of varying size. Key Clinical Message Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis, which is characterized by the deposition of amorphous hyaline material in various tissues, including the mucosa, visceral organs, and skin. We report a case of a 11‐
Hashmi FN +7 more
europepmc +2 more sources
A novel nonsense mutation in exon 9 in the extracellular matrix protein 1 gene associated with lipoid proteinosis: A case report. [PDF]
SAGE Open Med Case Rep, 2019 Lipoid proteinosis is a rare autosomal recessive genodermatosis that is caused by loss-of-function mutations in the extracellular matrix protein 1 gene. This study identifies a novel nonsense mutation in exon 9 of the extracellular matrix protein 1 gene ...
Ghazawi FM, Proulx ES, Jafarian F.
europepmc +2 more sources
Ocular manifestations in lipoid proteinosis: A rare clinical entity.
Indian J Ophthalmol, 2015 Lipoid proteinosis is a rare autosomal recessive genodermatosis with abnormal lipid protein complexes deposition in different parts of the body, especially in the skin and mucus membranes of the upper aerodigestive tract.
Kamath SJ, Marthala H, Manapragada B.
europepmc +2 more sources
Indian Journal of Dermatology, 2006 A three and half years old female child with lipoid proteinosis with no history of parental consanguinity and affected siblings has been reported here.
Mukhija Pooja +3 more
doaj +5 more sources