Pathogenesis and management of TRPV3-related Olmsted syndrome

Antong Lu; Kezhen Li; Cong Huang; Bo Yu; Weilong Zhong

doi:10.3389/fgene.2024.1459109

Pathogenesis and management of TRPV3-related Olmsted syndrome

Front Genet. 2024 Dec 11:15:1459109. doi: 10.3389/fgene.2024.1459109. eCollection 2024.

Authors

Antong Lu^{1

2

3

4}, Kezhen Li^{1

2

3

5}, Cong Huang^{1

2

3}, Bo Yu^{1

2

3

4

5}, Weilong Zhong^{1

2

3}

Affiliations

¹ Department of Dermatology, Peking University Shenzhen Hospital, 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 Institute of Dermatology, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, China.
⁴ Shantou University Medical College, Shantou, China.
⁵ Shenzhen University Medical School, Shenzhen, China.

Abstract

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.

Publication types

Review

Grants and funding

The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This work was supported by National Natural Science Foundation of China (No. 82203900), Guangdong Basic and Applied Basic Research Foundation (No. 2021A1515111009), Shenzhen Sanming Project (No. SZSM202311029) and Shenzhen Key Medical Discipline Construction Fund (No. SZXK040).