Print friendly version
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin.Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined
Last updated: 11/1/2013
- 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.
- Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques. Online Mendelian Inheritance in Man (OMIM). 2012; http://omim.org/entry/614594. Accessed 11/1/2013.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Olmsted syndrome. We will answer your question and update these pages with new resources and information.
On this page
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Olmsted syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.