Expanding The Phenotypic Spectrum Of Olmsted Syndrome

    June 2015 in “ Journal of Investigative Dermatology ”
    Neil Wilson, Christian Cole, Leonard M. Milstone, Ana Elisa Kiszewski, C. David Hansen, Edel A. O’Toole, Mary Schwartz, W.H. Irwin McLean, Frances J.D. Smith
    Studysummary 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. Our plain-language summary of this paper — not a Tressless recommendation.
    The study expanded the understanding of Olmsted syndrome (OS) by identifying heterozygous missense mutations in the TRPV3 gene in six families, including two novel mutations, p.Gly573Cys and p.Gly568Val. These mutations were linked to symptoms such as painful palmoplantar keratoderma, alopecia, and hyperhidrosis, although with less severity than typical OS. The research underscored the genetic heterogeneity of OS and the significant role of TRPV3 mutations in its pathogenesis. It also suggested that environmental factors or modifier genes might influence the variability of symptoms, highlighting the importance of considering TRPV3 mutations in diagnosing painful palmoplantar keratoderma.
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