Lipoid proteinosis (Urbach-Wiethe disease).

نویسندگان

  • C Costagliola
  • M Verolino
  • P Landolfo
  • N R Winkler
  • L Mastropasqua
  • V Landolfo
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.

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منابع مشابه

Lipoid proteinosis: Report of three cases in one family

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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.

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Urbach-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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عنوان ژورنال:
  • Acta paediatrica

دوره 82 10  شماره 

صفحات  -

تاریخ انتشار 1989