Results 1 to 10 of about 400 (148)

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 ...
George Velonakis, Nikolaos-Achilleas Arkoudis, Dimitrios K 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 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   +4 more sources

Urbach-Wiethe Syndrome and the Ophthalmologist: Review of the Literature and Introduction of the First Instance of Bilateral Uveitis [PDF]

Case Reports in Medicine, 2012
Patients suffering from Urbach-Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae, may have an ophthalmologist involved in the diagnosis and management of their disease.
Seyed-Mojtaba Abtahi, Farzan Kianersi, Mohammad-Ali Abtahi, Seyed-Hossein Abtahi, Arash Zahed, Hamid-Reza Fesharaki, Zahra-Alsadat Abtahi, Shahzad Baradaran, Mehdi Mazloumi, Saeed Naghiabadi   +9 more
doaj   +3 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

Lipoid proteinosis: A rare genodermatosis with multisystemic manifestations-A case report. [PDF]

Clin Case Rep
Waxy 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, Huma S, Singireddy H, Zareen N, Suvvari TK, Ansari MH, Sultana N, Hasibuzzaman MA.   +7 more
europepmc   +2 more sources

Behavioral, neurological, and psychiatric frailty of autobiographical memory

WIREs Cognitive Science, Volume 14, Issue 3, May/June 2023., 2023
The five long‐term memory systems and their assumed brain bases. Abstract Autobiographical‐episodic memory is considered to be the most complex of the five long‐term memory systems. It is autonoetic, which means, self‐reflective, relies on emotional colorization, and needs the features of place and time; it allows mental time traveling. Compared to the
Hans J. Markowitsch, Angelica Staniloiu
wiley   +1 more source

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

Pediatric Dermatology, Volume 40, Issue 1, Page 113-119, January/February 2023., 2023
Abstract Background/objectives Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss‐of‐function pathogenic variants in the extracellular matrix protein‐1 (ECM1) gene. The typical clinical manifestations of LP include hoarseness of voice, beaded papules on the eyelids, infiltration and scarring of the skin ...
Mingfeng Li, Judith Fischer, Sylvia Safwat, Walaa Shoman, Yasmine El Chazli, Svenja Alter, Cristina Has, Ebtesam Abdalla   +7 more
wiley   +1 more source

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