Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2007 (1975)

MeSH Hierarchy

Tree Numbers

  1. C08w.618.490.500w
  2. C16w.320w.850w.595w

AMA Style

References

  1. National Library of Medicine. Lipoid Proteinosis of Urbach and Wiethe. Medical Subject Headings (MeSH). 2026. Unique ID D008065. http://id.nlm.nih.gov/mesh/2026/D008065
  2. Lipoid Proteinosis of Urbach and Wiethe. In: Wikipedia. https://en.wikipedia.org/wiki/Urbach%E2%80%93Wiethe_disease
  3. Lipoid Proteinosis of Urbach and Wiethe. In: Wikidata. https://www.wikidata.org/wiki/Q2500124