LIPOIDOSIS CUTIS ET MUCOSAE (LIPOIDPROTEINOSE URBACH-WIETHE): REPORT OF A CASE
نویسندگان
چکیده
منابع مشابه
A 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 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 کاملLipidproteinosis (urbach-wiethe Syndrome).
SIEBENMANN (1908) described lipidproteinosis, and the condition was subsequently reported as a clinical entity by Urbach and Wiethe (1929). During infancy and early childhood a structureless eosinophilic substance develops under the epithelium of the skin and upper respiratory tract. Hoarseness is followed by a skin eruption giving a pale, yellow-brown, pock-marked appearance, especially on the...
متن کاملLipoid 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...
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ژورنال
عنوان ژورنال: The Keio Journal of Medicine
سال: 1954
ISSN: 1880-1293,0022-9717
DOI: 10.2302/kjm.3.163