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 ...
Jiong Zhou
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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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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.
Sayan Chattopadhyay, Sankalp Verma
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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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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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Lipoid Proteinosis: A Rare Encounter in Dental Office [PDF]
Case Reports in Dentistry, 2015 Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases
Prasannasrinivas Deshpande +5 more
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Lipoid proteinosis: A rare entity
Indian Journal of Ophthalmology, 2015 Urbach–Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs ...
Bipasha Mukherjee, Pratheeba N Devi
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A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations
Clinical, Cosmetic and Investigational DermatologyYu-Ling Liu, Zeng-Yun-Ou Zhang, Xiao-Mei Chen Department of Dermatology and Venerology, West China Hospital of Sichuan University, Chengdu, People’s Republic of ChinaCorrespondence: Xiao-Mei Chen, Department of Dermatology, West China Hospital of Sichuan
Zeng-Yun-Ou Zhang
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Association Between Lipoid Proteinosis And Coeliac Disease [PDF]
Dermatology Practical & Conceptual, 2023 Layla Bendaoud +3 more
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