منابع مشابه
Lipoid 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 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 کاملEpilepsy and migraine in a patient with Urbach–Wiethe disease
We report the clinical, neuroradiological, and molecular genetic findings in a patient with lipoid proteinosis or Urbach-Wiethe disease. Interestingly, in this patient epilepsy and migraine were the symptoms leading to the diagnosis of the disease, contrary to most patients in whom skin abnormalities are the first recognized symptoms.
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ژورنال
عنوان ژورنال: Indian Pediatrics
سال: 2018
ISSN: 0019-6061,0974-7559
DOI: 10.1007/s13312-018-1413-2