Lipoid Proteinosis of Urbach and Wiethe
Synonyms
Hyalinosis Cutis et Mucosae
Lipoid Proteinosis, Urbach-Wiethe
Lipoidproteinosis
Lipoproteinosis
Urbach Wiethe Disease
Urbach Wiethe Lipoid Proteinosis
Urbach-Wiethe Disease
Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Syndrome
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