Results 31 to 40 of about 400 (148)
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 +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 +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 +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 +6 more
wiley +1 more source
Lipoid proteinosis or Urbach-Wiethe disease: description of a new case with cerebral involvement
Neurología (English Edition), 2017 Abril-Jaramillo, J. +5 more
openaire +3 more sources
Amygdala control of emotion-induced forgetting and remembering: evidence from Urbach-Wiethe disease [PDF]
, 2007 When presented in a neutral context, emotional items interfere with episodic encoding of temporally contiguous non-emotional items, resulting in dissociable valence-dependent retrograde and arousal-dependent anterograde modulatory effects.
Amunts, K. +22 more
core +1 more source
Teaching Neuro Images : Lipoid proteinosis (Urbach-Wiethe disease) [PDF]
Neurology, 2013 Lipoid proteinosis (LiP) results from a multisystem intracellular deposition of noncollagenous proteins and glycoproteins. This deposition appears to be related to the synthesis and metabolism of collagen and is a result of an autosomal recessive mutation with loss-of-function and reduced or absent expression of the extracellular matrix protein 1 gene (
Marcelo Bianco, Quirici +1 more
openaire +2 more sources
Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings
Clinical Medicine Insights: Case ReportsLipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and ...
Muhammad Murtaza MBBS +4 more
doaj +1 more source
Eye-Lid Involvement in Urbach-Wiethe Disease
, 2006 A 27 year old female presented with burning, redness, tearing and little bumps on eye-lid margins. Her visual acuity was 20/20 in both eyes. Slit-lamp microscopy was within normal limits except for multiple papulonodular lesions on both eye-lid margins ...
Kaya, Mahrnut +5 more
core +1 more source