Results 11 to 20 of about 394 (137)
, 2008 OBJETIVO: Apresentar as características clínicas, tratamento cirúrgico e achado histológico de um caso de lipoidoproteinose. DESCRIÇÃO DO CASO: Criança do sexo masculino, cinco anos de idade, branco, que procurou atendimento odontológico na Universidade.
BRESAOLA, Marco Dapieve +6 more
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Lipoid Proteinosis in a Young Female: A Case Report [PDF]
International Journal of Anatomy Radiology and Surgery, 2017 Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive disorder. It is characterised by progressive deposition of hyaline substance in the mucous membranes, skin and internal organs.
Veeraputhiran Senthilvelmurugan +2 more
doaj +1 more source
A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations. [PDF]
Journal of Medical Genetics, 1975 We report a case of hyalinosis cutis et mucosae, a rare disorder of hyalin deposition in skin and mucous membranes, in a 27-year-old male, whose coefficient of inbreeding was 0-0106 due to seven common ancestors, including an aunt of an early American president, in the eight preceding generations.
R C, Juberg, P R, Winder, L L, Turk
openaire +2 more sources
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 +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
Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family [PDF]
, 2011 Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood that is caused by homozygous or compound heterozygous mutations in the ECM1 gene located on chromosome ...
Muhammad Nasir +5 more
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An Enhanced Default Approach Bias Following Amygdala Lesions in Humans [PDF]
, 2015 Approach and avoidance constitute a basic dimension of all animal behavior. Although a large number of studies have investigated approach and avoidance elicited by specific sensory stimuli, comparatively little is known about default approach biases when
Adolphs, Ralph +2 more
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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
Lipoid proteinosis: identification of a novel nonsense mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh [PDF]
, 2023 Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice ...
Alam, Md. Jahangir +7 more
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