Preferred Label : lipoid proteinosis of urbach and wiethe;

MeSH 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.;

MeSH synonym : lipoid proteinosis, urbach-wiethe; lipoidproteinosis; lipoproteinosis; urbach-wiethe disease; urbach wiethe disease; urbach-wiethe lipoid proteinosis; urbach wiethe lipoid proteinosis; urbach-wiethe syndrome; hyalinosis cutis et mucosae;

Wikipedia link : https://en.wikipedia.org/wiki/Urbach-wiethe syndrome;

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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.

http://www.dermis.net/dermisroot/fr/23929/diagnose.htm
Germany
French
lipoid proteinosis of urbach and wiethe
diagnosis, differential
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27/07/2025


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