Lipoid Proteinosis of Urbach and Wiethe

**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.

**Tree numbers:** - C08.618.490.500 - C16.320.850.595

**Synonyms:** - Hyalinosis Cutis et Mucosae - Lipoidproteinosis - Urbach-Wiethe Disease - Urbach-Wiethe Lipoid Proteinosis - Urbach-Wiethe Syndrome - Lipoproteinosis