Results 1 to 10 of about 321 (116)

Brain imaging findings in lipoid proteinosis (Urbach-Wiethe disease) [PDF]

Radiology Case Reports
We 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 ...
Georgios Velonakis, Nikolaos-Achilleas Arkoudis, Dimitrios Filippiadis   +2 more
exaly   +6 more sources

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, Raphael Goveia Rodeghiero, Patrícia Naomi Ando Suzuki, Marília Marufuji Ogawa   +3 more
doaj   +5 more sources

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
doaj   +2 more sources

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
doaj   +2 more sources

Urbach-Wiethe syndrome: report of two clinical cases [PDF]

Dermatology Reports
Urbach-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, Emanuele Miraglia, Giovanni Pellacani, Sandra Giustini   +3 more
doaj   +2 more sources

Lipoid proteinosis (Urbach-Wiethe syndrome). [PDF]

British Journal of Ophthalmology, 1979
A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.
D Hanau, V Gödel
exaly   +3 more sources

Lipoid Proteinosis (Urbach-Wiethe Disease): A Rare Genodermatosis with Characteristic Dermatological and Neuroimaging Findings. [PDF]

Ann Indian Acad Neurol, 2021
Chatterjee A, Viswanathan LG, Nagappa M, Sinha S.   +3 more
europepmc   +4 more sources

Lipoid proteinosis (urbach wiethe disease)-A case report

Indian Journal of Otolaryngology, 2000
P V S Prasad
exaly   +4 more sources

Lipoid Proteinosis in a Young Female: A Case Report [PDF]

International Journal of Anatomy Radiology and Surgery, 2017
Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive disorder. It is characterised by progressive deposition of hyaline substance in the mucous membranes, skin and internal organs.
Veeraputhiran Senthilvelmurugan, Arumugam Premalatha, Gerard Vinodh   +2 more
doaj   +1 more source

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing

Journal of Biochemical and Clinical Genetics, 2021
Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported
Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari   +5 more
doaj   +1 more source