Lipoid Proteinosis of Urbach and Wiethe

Overview

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Is a:

Disease or Syndrome

Definition:

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.

Synonyms:

Lipoid Proteinosis, Urbach-Wiethe
Lipoidproteinosis
Lipoproteinosis
Urbach Wiethe Disease
Urbach Wiethe Lipoid Proteinosis
Urbach-Wiethe Disease
Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Syndrome

Broader Topics:

Narrower Topics:

None

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