Lipoid Proteinosis (Urbach-Wiethe) (Hyalinosis Cutis et Mucosæ)
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 کاملA case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations.
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.
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 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: Proceedings of the Royal Society of Medicine
سال: 1961
ISSN: 0035-9157
DOI: 10.1177/003591576105400311