Other terms
Urbach-Wiethe Disease,Urbach Wiethe Disease,Urbach-Wiethe Lipoid Proteinosis,Lipoid Proteinosis, Urbach-Wiethe,Urbach Wiethe Lipoid Proteinosis,Urbach-Wiethe Syndrome,Lipoidproteinosis,Lipoproteinosis
Description
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.
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