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.
Also Known As:
Lipoidproteinosis; Hyalinosis Cutis et Mucosae; Urbach-Wiethe Lipoid Proteinosis; Urbach-Wiethe Syndrome; Lipoid Proteinosis, Urbach-Wiethe; Urbach Wiethe Disease; Urbach Wiethe Lipoid Proteinosis; Lipoproteinosis; Urbach-Wiethe Disease