Lipoid Proteinosis of Urbach and Wiethe

MeSH code information

• Name
  Lipoid Proteinosis of Urbach and Wiethe
• Concept
  Scope note: 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
• Qualifiers
  diagnosis, parasitology, immunology, microbiology, diagnostic imaging, physiopathology, rehabilitation, enzymology, etiology, mortality, epidemiology, blood, cerebrospinal fluid, chemically induced, diet therapy, drug therapy, therapy, psychology, urine, virology, veterinary, history, classification, economics, embryology, genetics, nursing, radiotherapy, ethnology, prevention & control, pathology, metabolism, complications, surgery