Lipoid proteinosis (Urbach-Wiethe disease).
نویسندگان
چکیده
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 consanguinity. Routine laboratory investigations were normal in all family members tested. The total content of mucopolysaccharides, sialic acid and hexosamine in biopsed tissue was significantly lower than normal. Our findings demonstrate that a defect in glycoprotein synthesis, possibly enzymatic, may be the cause of lipid proteinosis and its protean clinical manifestations.
منابع مشابه
Lipoid proteinosis: Report of three cases in one family
Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although
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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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URBACH-WIETHE is a very rare autosomally recessive disorder characterized by infiltration of hyaline material into skin,oral cavity,larynx,and internal organs.in this report we persent a case of a 22 year old woman with small scars on her face,hoarseness,firm tongue and beaded papules along the margins of eyelids,who was referred to the deparment of ophthalmology of Kerman university No3: hospi...
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 کاملUrbach-Wiethe disease: experience at a tertiary care hospital in Abbottabad, Pakistan.
BACKGROUND Urbache-Wiethe disease (Lipoid Proteinosis) is a rare autosomal recessive disorder characterized by the deposition of an eosinophilic hyaline-like material in the skin, larynx, mucous membranes, brain, and other internal organs. METHODS A survey of one year duration was carried out prospectively at the Department of Dermatology, Ayub Teaching Hospital Abbottabad to document cases o...
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ورودعنوان ژورنال:
- Acta paediatrica
دوره 82 10 شماره
صفحات -
تاریخ انتشار 1989