Lipoid Proteinosis of Urbach and Wiethe

MeSH code information
  • Name
  • Concept
    Scope note:An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
  • Tree numbers
    • C08.618.490.500
    • C16.320.850.595
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Lipoid Proteinosis of Urbach and Wiethe - MeSH Info at Genta
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