Results 1 to 10 of about 768 (131)
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
Brain imaging findings in lipoid proteinosis (Urbach-Wiethe disease) [PDF]
Radiology Case ReportsWe 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 ...
Athanasios Tsochatzis, MD, PhD +5 more
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Esophageal Aperistalsis in a Patient with Lipoid Proteinosis [PDF]
Middle East Journal of Digestive Diseases, 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
Behrooz Afshar +3 more
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Lipoid proteinosis: A rare case revisited
Indian Journal of Dermatology, 2023 Arun Achar +5 more
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Lipoid proteinosis: Review of Indian cases. [PDF]
J Oral Maxillofac Pathol, 2022 Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by the deposition of amorphous hyaline material in the dermis and submucosal connective tissue. To date <500 cases of LP have been described and oral manifestations described in a very few reports.
Shah JS, Shah HA.
europepmc +3 more sources
Identification of a Novel Mutation of Extracellular Matrix Protein 1 Gene in a Chinese Family with Lipoid Proteinosis [PDF]
Clinical, Cosmetic and Investigational Dermatology, 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
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Oral manifestations of lipoid proteinosis: A case report and literature review
Saudi Dental Journal, 2013 Lipoid proteinosis is an uncommon autosomal recessive metabolic disorder that presents in early life with hoarseness and pox-like acneiform scars involving the skin and mucous membranes.
Sankalp Verma, Sayan Chattopadhyay
exaly +3 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 Medical Case Reports, 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 ...
Feras M Ghazawi +2 more
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Mucosa, 2021 Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions of the body, including skin, mucous membranes, brain, internal organs. LP is caused by mutations in the gene encoding the extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this
Mustafa Aksoy +2 more
exaly +4 more sources
Ocular manifestations in lipoid proteinosis: A rare clinical entity
Indian Journal of Ophthalmology, 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.
Sumana J Kamath +2 more
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