Case Report: Novel p.Val306Met Missense Mutation in TRPV3 in a Case of Olmsted Syndrome Accompanied by Squamous Cell Carcinoma

    October 2024 in “ Frontiers in Oncology ”
    Yangyang Hao, Rong Wu, Xi Chen … Jianqiang Yang
    Studysummary This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.
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    Research cited in this study 2

    1. Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene Yonsei Medical Journal · 2018
    2. Activation of Transient Receptor Potential Vanilloid-3 Inhibits Human Hair Growth ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2011