Lipoid Proteinosis of Urbach and Wiethe

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.

Year introduced: 2007 (1975)

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Tree Number(s): C08.618.490.500, C16.320.850.595

MeSH Unique ID: D008065

Entry Terms:

• Hyalinosis Cutis et Mucosae
• Lipoidproteinosis
• Urbach-Wiethe Disease
• Urbach Wiethe Disease
• Urbach-Wiethe Lipoid Proteinosis
• Lipoid Proteinosis, Urbach-Wiethe
• Urbach Wiethe Lipoid Proteinosis
• Urbach-Wiethe Syndrome
• Lipoproteinosis

See Also:

• Hyaline Fibromatosis Syndrome

All MeSH Categories
Diseases Category
Respiratory Tract Diseases
Respiration Disorders
Hoarseness
Lipoid Proteinosis of Urbach and Wiethe

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Lipoid Proteinosis of Urbach and Wiethe