Other Names for this Disease
- Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Palmoplantar and periorificial keratoderma
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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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