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Genetic and Rare Diseases Information Center (GARD)

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Olmsted syndrome


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Overview

Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair.[1] It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene.[2] It is transmitted through autosomal dominant inheritance.[1][2] Treatment includes oral and topical retinoids, such as acetretin.[1]
Last updated: 11/1/2013

References

  1. Palmoplantar keratodermas (PPK) Fact Sheet. Foundation for Ichthyosis and Related Skin Types (FIRST). http://www.firstskinfoundation.org/content.cfm/Ichthyosis/Palmoplantar-Keratodermas-PPK-Fact-Sheet/page_id/903?gclid=CO6encqexLoCFVEOOgodeT4A4w. Accessed 11/1/2013.
  2. Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques. Online Mendelian Inheritance in Man (OMIM). 2012; http://omim.org/entry/614594. Accessed 11/1/2013.
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In Depth Information

  • 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.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.