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REVIEW article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1459109

Pathogenesis and management of TRPV3-related Olmsted syndrome

Provisionally accepted
Antong Lu Antong Lu 1,2,3,4*Kezhen Li Kezhen Li 1,2,3,5*Cong Huang Cong Huang 1,2,3Weilong Zhong Weilong Zhong 1,2,3*Bo Yu Bo Yu 1,2,3,4,5*
  • 1 Shenzhen Hospital, Peking University, Shenzhen, China
  • 2 Shenzhen Key Laboratory for Translational Medicine of Dermatology, Biomedical Research Institute, Shenzhen Peking University - The Hong Kong University of Science and Technology Medical Center, Shenzhen, China
  • 3 Shenzhen Peking University Hong Kong University of Science and Technology Medical Center, Shenzhen, China
  • 4 College of Medicine, Shantou University, Shantou, Guangdong Province, China
  • 5 School of Medicine, Shenzhen University, Shenzhen, Guangdong Province, China

The final, formatted version of the article will be published soon.

    Olmsted syndrome is characterized by symmetrically distributed, destructive, inflammatory palmoplantar keratoderma with periorificial keratotic plaques, most commonly due to gain-of-function mutations in the Transient Receptor Potential Vanilloid 3 (TRPV3) gene, which involves multiple pathological functions of the skin, such as hyperkeratosis, dermatitis, hair loss, itching, and pain. Recent studies suggest that mutations of TRPV3 located in different structural domains lead to cases of varying severity, suggesting a potential genotype-phenotype correlation resulting from TRPV3 gene mutations. This paper reviews the genetics and pathogenesis of Olmsted syndrome, as well as the potential management and treatment. This review will lay a foundation for further developing the individualized treatment for TRPV3-related Olmsted syndrome.

    Keywords: Olmsted syndrome, TRPV3, Hyperkeratosis, itch, Mutation

    Received: 03 Jul 2024; Accepted: 26 Nov 2024.

    Copyright: © 2024 Lu, Li, Huang, Zhong and Yu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Antong Lu, Shenzhen Hospital, Peking University, Shenzhen, China
    Kezhen Li, Shenzhen Hospital, Peking University, Shenzhen, China
    Weilong Zhong, Shenzhen Hospital, Peking University, Shenzhen, China
    Bo Yu, Shenzhen Hospital, Peking University, Shenzhen, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.