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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 10 of 289

    1. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations
    2. Expanding the Phenotypic Spectrum of Olmsted Syndrome Journal of Investigative Dermatology · 2015 · 27 citations
    3. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene Yonsei Medical Journal · 2018 · 13 citations
    4. Olmsted syndrome Journal of Dermatological Case Reports · 2013 · 2 citations
    5. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    6. Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma Frontiers in Oncology · 2024
    7. Hypotrichosis in a child with olmsted syndrome Indian Dermatology Online Journal · 2018
    8. Two familial cases of Olmsted-like syndrome with a G573V mutation of the<i>TRPV3</i>gene Clinical and experimental dermatology · 2016 · 12 citations
    9. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation Journal of dermatological science · 2017 · 5 citations
    10. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
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