Results 21 to 30 of about 332 (125)

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   +3 more sources

Lipoid Proteinosis: A Rare Encounter in Dental Office

Case Reports in Dentistry, Volume 2015, Issue 1, 2015., 2015
Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far.
Prasannasrinivas Deshpande, Mahima Veeranna Guledgud, Karthikeya Patil, Usha Hegde, Ankita Sahni, Sreeshlya Huchanahalli Sheshanna, Sukumaran Anil   +6 more
wiley   +1 more source

N‐Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis

FEBS Open Bio, Volume 4, Issue 1, Page 879-885, January 01, 2014., 2014
Extracellular matrix protein 1 (ECM1) is expressed in a wide variety of tissues and plays important roles in extracellular matrix formation. Additionally, ECM1 gene mutations cause lipoid proteinosis (LP), a rare skin condition of genetic origin. However, an effective therapeutic approach of LP is not established.
Shiho Uematsu, Yuki Goto, Takehiro Suzuki, Yukiko Sasazawa, Naoshi Dohmae, Siro Simizu   +5 more
wiley   +1 more source

Gastrointestinal Involvement in Lipoid Proteinosis: A Ten‐Year Follow‐Up of a Brazilian Female Patient

Case Reports in Medicine, Volume 2014, Issue 1, 2014., 2014
Lipoid proteinosis is a rare autosomal recessive disease characterized by the deposition of hyaline material in the skin and internal organs. The main clinical features are hoarseness and typical skin lesions. In this report we describe the endoscopic and radiologic findings in a Brazilian female patient presenting extensive gastrointestinal ...
Juliana Custódio Lima, Cristiane Kibune Nagasako, Ciro Garcia Montes, Irene Harumi Kamata Barcelos, Rita Barbosa de Carvalho, Maria Aparecida Mesquita, Jahn M. Nesland   +6 more
wiley   +1 more source

Você conhece esta síndrome? Do you know this Syndrome

Anais Brasileiros de Dermatologia, 2008
A síndrome de Urbach-Wiethe, também conhecida como lipoidoproteinose ou hialinose cutânea e mucosa (OMIM 247100), é rara genodermatose de herança autossômica recessiva, de patogênese desconhecida, que se caracteriza pela deposição de material hialino na ...
Luciana Baptista Pereira, João Renato Vianna Gontijo   +1 more
doaj   +1 more source

Acitretin Treatment for Lipoid Proteinosis

Case Reports in Dermatological Medicine, Volume 2012, Issue 1, 2012., 2012
Lipoid proteinosis (LP) is a rare, autosomal‐recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun‐exposed areas. Yellow‐white plaques can be seen on oral mucosa and on the skin among depressed scars.
Özgür Gündüz, Neriman Şahiner, Pınar Atasoy, Çağrı Şenyücel, A. Morita, E. Schmidt   +5 more
wiley   +1 more source

The Possible Contribution of the Amygdala to Memory

Behavioural Neurology, Volume 6, Issue 3, Page 167-170, 1993., 1993
The processing of episodic memories is believed to depend on the proper functioning of so‐called bottleneck structures through which information apparently must pass in order to be stored long term. These regions are seen in the basal forebrain, the medial diencephalon, and the medial temporal lobe.
R. Babinsky, P. Calabrese, H. F. Durwen, H. J. Markowitsch, D. Brechtelsbauer, L. Heuser, W. Gehlen   +6 more
wiley   +1 more source

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   +3 more sources

Lipoid Proteinosis (Urbach-Wiethe Disease): A Case Report from India [PDF]

Ear, Nose & Throat Journal, 2008
Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal-recessive anomaly that primarily affects the skin and the mucosa of the upper aerodigestive tract in children. It is caused by hyaline deposits in tissues. Hoarseness secondary to laryngeal involvement is frequently the first presenting feature.
Kadambari, Batra, Anil, Safaya, Kiran, Aggarwal   +2 more
openaire   +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   +2 more sources