Lipoid Proteinosis of Urbach and Wiethe (definition)

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ψ ψ	Lipoid Proteinosis of Urbach and Wiethe

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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.

See Also Hyalinosis, Systemic

Other names Urbach-Wiethe Disease; Lipoproteinosis; Urbach Wiethe Lipoid Proteinosis; Urbach Wiethe Disease; Lipoid Proteinosis, Urbach-Wiethe; Urbach-Wiethe Syndrome; Urbach-Wiethe Lipoid Proteinosis; Lipoidproteinosis; Hyalinosis Cutis et Mucosae

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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