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Lipoid Proteinosis of Urbach and Wiethe

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.

Year introduced: 2007 (1975)

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Subheadings:

Tree Number(s): C08.618.490.500, C16.320.850.595

Entry Terms:

  • Lipoidproteinosis
  • Urbach-Wiethe Syndrome
  • Urbach-Wiethe Disease
  • Urbach Wiethe Disease
  • Urbach-Wiethe Lipoid Proteinosis
  • Lipoid Proteinosis, Urbach-Wiethe
  • Urbach Wiethe Lipoid Proteinosis
  • Hyalinosis Cutis et Mucosae
  • Lipoproteinosis

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