Lipoid proteinosis (Urbach-Wiethe syndrome).
نویسندگان
چکیده
منابع مشابه
Lipoid proteinosis (Urbach-Wiethe syndrome).
A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.
متن کاملLipoid proteinosis (Urbach-Wiethe disease).
The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression. The most likely mode of inheritance is autosomal recessive due to c...
متن کامل[Lipoid proteinosis (Urbach-Wiethe's Disease)].
A 25-year-old female patient was admitted to our outpatient clinic with postpartum hoarseness. Punch biopsy specimens obtained from the larynx and sublingual region revealed multi-folded squamous epithelium with a hyperkeratosis pattern and amorphous hyaline material aggregation. This aggregation was also remarkable around the vessels. Histochemical examination showed periodic acid-schiff-posit...
متن کاملUrbach-Wiethe syndrome.
To cite: Parida JR, Misra DP, Agarwal V. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015212443 DESCRIPTION A 14-year-old girl was referred for skin tightening in the fingers. She did not have Raynaud’s phenomenon, gastroesophageal reflux disease or other systemic symptoms. She had had a hoarse voice since birth and was developmentally normal. She was born of ...
متن کاملlipoid proteinosis: a case report urbach & wiethe disease
lipoid proteinosis (lp) is a rare autosomal recessive disease characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera. the classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. skin and mucous changes develope, and the disease follows a slowly progressive course. in this case report, a 49 year-old man presented with a...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1979
ISSN: 0007-1161
DOI: 10.1136/bjo.63.10.694