Urbach–wiethe disease: Hyalinosis cutis et mucosae [PDF]
Oman Journal of Ophthalmology, 2021 Urbach-Wiethe Disease is an uncommon entity with autosomal recessive inheritance. We describe the clinical and histopathological findings of lipoid proteinosis in this clinical image.
Prabrisha Banerjee, Bipasha Mukherjee
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Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease), [PDF]
Anais Brasileiros de Dermatologia, 2022 Lipoid proteinosis is a rare autosomal recessive disease, characterized by hyaline deposits of PAS-positive material in tissues due to mutations in the ECM1 gene.
Hiram Larangeira de Almeida Jr +3 more
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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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Lipoid proteinosis (Urbach-Wiethe disease) in two siblings
Indian Dermatology Online Journal, 2014 Lipoid proteinosis is a very rare autosomal recessive disorder characterized by deposition of hyaline material in the skin and the upper aerodigestive tract. Hoarseness of voice occurs very early in life and airway obstruction may occur.
Rekha Thaddanee +3 more
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Intracranial hemorrhage in a patient with Urbach-Wiethe disease [PDF]
Arquivos de Neuro-PsiquiatriaAna Luisa de Carvalho Cardozo Hernández +7 more
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International Journal of Pediatric Otorhinolaryngology Extra, 2006 Summary Objective: Urbach–Wiethe disease (lipoid proteinosis) is a rare, recessively inherited disorder, characterized by infiltration of a hyalin-like material in skin, mucous membranes, brain and other internal organs. We present a case of a child with this rare disease.
Dimitrios Balatsouras
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How can key findings from patients with Urbach-Wiethe Disease (UWD) support the role of amygdala in socio-emotional-cognitive functioning? The case of a young adult with genetically proven UWD without amygdala calcifications [PDF]
European Psychiatry, 2023 Introduction Urbach-Wiethe disease (UWD; also named Lipoid proteinosis or Hyalinosis cutis et mucosae) was first described in 1929 by the Austrian scientists Erich Urbach and Camillo Wiethe and constitutes an autosomal recessive disorder which is ...
A. Staniloiu, H. J. Markowitsch
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Urbach-Wiethe disease (lipoid proteinosis)
Indian Journal of Pathology and Microbiology, 2012 Lipoid proteinosis is a rare autosomal recessive disorder of variable severity that may involve the skin, mucous membranes of the upper respiratory tract and internal organs that may display different clinical manifestations based on the site of ...
Ulku Kucuk +5 more
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Urbach-Wiethe syndrome: report of two clinical cases [PDF]
Dermatology ReportsUrbach-Wiethe syndrome, also known as lipoid proteinosis (LP), is a rare genodermatosis clinically characterized by mucocutaneous lesions, dysphonia with onset in early childhood, and, sometimes, neurological complications.
Ilaria Demofonte +3 more
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Lipoid proteinosis (urbach-wiethe disease): A rare genodermatosis with characteristic dermatological and neuroimaging findings [PDF]
Annals of Indian Academy of Neurology, 2021 Aparajita Chatterjee +3 more
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