Results 11 to 20 of about 332 (125)

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

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   +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

Verrucous papules and plaques in a middle‐aged man

, 2023
International Journal of Dermatology, Volume 62, Issue 10, Page 1215-1217, October 2023.
Ruan S. de Jager, Nicola A. Gray, Johann W. Schneider   +2 more
wiley   +1 more source

Genetic Disorders of the Extracellular Matrix

The Anatomical Record, Volume 303, Issue 6, Page 1527-1542, June 2020., 2020
ABSTRACT Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throughout the body. The elucidation of mutations and their correlation with pathology has been instrumental in understanding the roles of many ECM components. The pathological consequences of ECM protein mutations depend
Shireen R. Lamandé, John F. Bateman
wiley   +1 more source

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
doaj   +1 more source

LIPOID PROTEINOSIS: URBACH-WIETHE DISEASE

British Journal of Anaesthesia, 1989
An otherwise healthy patient with Urbach-Wiethe disease required surgical removal of two 3rd molar teeth. In this multisystem disorder infiltration of the buccal, pharyngeal and laryngeal mucosa may cause difficulties with tracheal intubation and increase the likelihood of trauma. The anaesthetic implications and management are described.
J E, Kelly, M T, Simpson, D, Jonathan, T E, Hollway   +3 more
openaire   +2 more sources

Lipoid proteinosis: A rare congenital genodermatosis

Journal of Dr. NTR University of Health Sciences, 2017
Lipoid proteinosis or Urbach–Wiethe disease is a very rare autosomal recessive disease. The term was first coined by Urbach. This disorder is characterized by intercellular deposition of periodic-acid Schiff-positive amorphous hyaline material in the ...
Mitali Madhumita Rath, Pranita Mohanty
doaj   +1 more source

Is it always blepharitis? Urbach–Wiethe syndrome (lipoid proteinosis) [PDF]

Arquivos Brasileiros de Oftalmologia, 2019
A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids.
Gunes, Bahar, Karadag, Remzi, Uzun, Lokman, Sımsek, Bengu Cobanoglu, Karadag, Ayse Serap   +4 more
openaire   +2 more sources