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Genetic and Rare Diseases Information Center (GARD)

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Lipoid proteinosis of Urbach and Wiethe


Other Names for this Disease

  • Hyalinosis cutis et mucosae
  • Lipoproteinosis
  • Urbach Wiethe disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. LP is caused by changes (mutations) in the ECM1 gene and is inherited in an autosomal recessive manner. There is currently no cure for LP and treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 11/24/2014

References

  1. Ivan D Camacho, MD. Lipoid Proteinosis. Medscape. January 10, 2014; http://emedicine.medscape.com/article/1103357-overview.
  2. http://www.ninds.nih.gov/disorders/lipoid_proteinosis/lipoid_proteinosis.htm. National Institute of Neurological Disorders and Stroke. January 2009; http://www.ninds.nih.gov/disorders/lipoid_proteinosis/lipoid_proteinosis.htm.
  3. Lipoid proteinosis. Orphanet. October 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lipoid proteinosis of Urbach and Wiethe. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyalinosis cutis et mucosae
  • Lipoproteinosis
  • Urbach Wiethe disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.