Results 11 to 20 of about 400 (148)

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   +3 more sources

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   +2 more sources

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 involvement.
Ulku Kucuk, Isin G Erdogan, Umit Bayol, Nazife Hacioglu, Ibrahim Cukurova, Cengiz Bicakci   +5 more
openaire   +4 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   +2 more sources

Lipoid proteinosis (Urbach-Wiethe disease): A case report [PDF]

TURKDERM, 2014
Lipoid proteinosis, which is known as Urbach-Wiethe disease, was first described in 1929 as lipoidosis cutis et mucosae by Urbach and Wiethe. It is a rare autosomal recessive inherited genodermatosis.
Munise Daye, Seda Doğan, İnci Mevlitoğlu, Sarenur Esener, Hatice Toy   +4 more
openaire   +2 more sources

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. Characteristic skin lesions include multiple brown atrophic scars over face and distal extremities, beaded papules ...
Rekha Thaddanee, Ajeet Kumar Khilnani, Purna Pandya, Mayank Chaturvedi   +3 more
openaire   +4 more sources

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   +2 more sources

Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness

B-ENT, 2015
Vocal fold hyalinosis in Urbach-Wiethe disease, a rare cause of hoarseness. Background: Lipoid proteinosis is an autosomal recessive disorder characterized by hyalin deposits in the skin and mucosa of the upper aerodigestive tract; currently, no ...
J. Honings, M. M. van Rossum, F. J. A. van den Hoogen   +2 more
doaj   +3 more sources

Marathon of eponyms: 21 Urbach‐Wiethe disease (Lipoid proteinosis)

Oral Diseases, 2011
Oral Diseases (2011) 17, 729–730The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in diseases of the head and neck is found mainly in specialties dealing with medically compromised individuals (paediatric dentistry, special care dentistry ...
C, Scully, J, Langdon, J, Evans
openaire   +3 more sources

Assessment of dynamic thiol-disulfide homeostasis in patients with lipoid proteinosis (Urbach-Wiethe syndrome). [PDF]

Rev Assoc Med Bras (1992), 2022
OBJECTIVE: Lipoid proteinosis is a rare autosomal recessive genetic dermatological disease that occurs due to the accumulation of hyaline material in the skin and mucous membranes.
Taskin S, Celik H, Taskin A, Aksoy M, An I, Yesilova Y.   +5 more
europepmc   +2 more sources