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    Glossary Olmsted Syndrome

    rare genetic disorder causing thickened skin on palms and soles

    Olmsted Syndrome is a rare genetic disorder characterized by severe palmoplantar keratoderma (thickening of the skin on the palms and soles) and periorificial keratotic plaques (hardened skin around body openings like the mouth and eyes). It often leads to significant pain, restricted movement, and can be associated with other symptoms such as alopecia (hair loss) and nail abnormalities. The condition is typically caused by mutations in the TRPV3 gene.

    Research

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      research Expanding the Phenotypic Spectrum of Olmsted Syndrome

      27 citations , June 2015 in “Journal of Investigative Dermatology”
      This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.

      research Olmsted syndrome

      2 citations , June 2013 in “Journal of Dermatological Case Reports”
      This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.

      research Pathogenesis and management of TRPV3-related Olmsted syndrome

      December 2024 in “Frontiers in Genetics”
      This review discusses the genetic causes and pathogenesis of Olmsted syndrome, emphasizing the potential for a genotype-phenotype correlation due to TRPV3 mutations, and explores avenues for individualized treatment developments for this condition.
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