Results 31 to 40 of about 131 (84)
A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx [PDF]
, 2014 Lipoid proteinosis (LP) is a rare genetic disease with autosomal recessive inheritance. It most often involves deposition of periodic acid Schiff positive hyaline material in skin, oral mucosa, larynx and other tissues.
Mahesh Chandra Sahu +2 more
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Molecular characterisation of the extracellular matrix protein 1 gene in lipoid proteinosis in South Africa [PDF]
, 2006 Faculty of Health Science Degree of Master of Science in Human Genetics 9809684wLipoid proteinosis (LP) (OMIM 247100) is a rare autosomal recessive disorder that is caused by mutations within the extracellular matrix protein 1 gene (ECM1).
van Hougenhouck-Tulleken, George, Wesley
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Mucous-cutaneuos hyalinosis : the clinical and histocompatibility antigens study [PDF]
, 2018 Orientador: Heron Fernando de Sousa GonzagaTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de PiracicabaResumo: A hialinose cutâneo-mucosa (HCM) é uma dermatose autossômica recessiva rara, congênita, de aparecimento precoce
Rodrigues, Marcelo
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Indian Journal of Dermatology, 2006 Lipoid proteinosis, a rare autosomal recessive disorder, results from the deposition of hyaline material in the skin, mucous membrane and different organs of the body resulting in a multitude of clinical manifestations. Here the case of a 12 year old boy,
Sen Sumit +2 more
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Lipoid Proteinosis: Case Report and Review Literature
Siriraj Medical Journal, 2014 Lipoid proteinosis is a rare autosomal recessive deposition disorder due to mutation in the extracellular matrix protein 1 gene. Until now, there were only 300 cases reported in literature. Moreover, case reports in Thailand are limited.
Charussri Leeyaphan
doaj
Lipoid proteinosis; a rare pathology, requiring multidisciplinary input. [PDF]
BMJ Case Rep, 2023 Fenech MT, Yeo D.
europepmc +1 more source
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child. [PDF]
Mol Syndromol, 2023 Eser HC +8 more
europepmc +1 more source
Urbach--Wiethe Disease: A Rare Cause of Bilateral Mesial Temporal Lobe Involvement and Cerebral Hemorrhage. [PDF]
Ann Indian Acad Neurol, 2022 Özdemir HN +3 more
europepmc +1 more source
Lipoid Proteinosis Masquerading as Seborrheic Dermatitis. [PDF]
Cureus, 2021 Tripathi A, Kumar Gupta S.
europepmc +1 more source
, 2008 We describe anatomo-electro-clinical features of temporal lobe epilepsy and social cognition skills in a 38 years old woman affected by Urbach-Wiethe disease. Patient's clinical history had typical features beginning in early infancy with low-pitched cry
A. F. Marliani +7 more
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