Results 21 to 30 of about 394 (137)
Atypical intracranial calcifications in a conventional Radiographic exam [PDF]
, 2015 An 18-year-old male patient of consanguineous parents, delivered at full-term by cesarean section and having no changes in neurodevelopment, presented with skin blisters that evolved to eruptions and scars immediately after birth.
Duarte, Juliana Avila +7 more
core +7 more sources
Oral granular cell tumor: a study of twelve cases in a Brazilian population [PDF]
, 2010 Objectives: Analyze clinic and epidemiological aspects of all Oral Granular cell tumor (GCT) during a 5-year period in a Brazilian population.
Gurgel Costa, Fábio Wildson +5 more
core +1 more source
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 +6 more
wiley +1 more source
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 +5 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
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
What does the amygdala contribute to social cognition? [PDF]
, 2010 The amygdala has received intense recent attention from neuroscientists investigating its function at the molecular, cellular, systems, cognitive, and clinical level. It clearly contributes to processing emotionally and socially relevant information, yet
Adolphs, Ralph
core +2 more sources
Single nucleotide substitution mutations and polymorphisms in ECM1 gene in lipoid proteinosis in siblings of a Pakistani family [PDF]
, 2013 A number of mutations in extracellular matrix protein 1 (ECM1) that is a glycoprotein and expressed in skin and other tissues are reported to cause a rare, autosomal recessive disorder called lipoid proteinosis (LP).
Azhar, A +5 more
core +2 more sources
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
Lipoid Proteinosis; A Case Report with Difficult Intubation [PDF]
, 2018 Lipoid proteinosis is an autosomal recessive disorder and caused by the mutations of ECM1 (extracellular matrix protein 1) gene on chromosome 1q21.
Aatir Fayyaz +4 more
core +1 more source