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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.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.