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Genetic and Rare Diseases Information Center (GARD)

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Olmsted syndrome

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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


  1. Palmoplantar keratodermas (PPK) Fact Sheet. Foundation for Ichthyosis and Related Skin Types (FIRST). Accessed 11/1/2013.
  2. Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques. Online Mendelian Inheritance in Man (OMIM). 2012; Accessed 11/1/2013.
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  • The Online Mendelian Inheritance in Man (OMIM) is an 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.