Pathogenesis and management of TRPV3-related Olmsted syndrome
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...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1459109/full |
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| author | Antong Lu Antong Lu Antong Lu Antong Lu Kezhen Li Kezhen Li Kezhen Li Kezhen Li Cong Huang Cong Huang Cong Huang Bo Yu Bo Yu Bo Yu Bo Yu Bo Yu Weilong Zhong Weilong Zhong Weilong Zhong |
| author_facet | Antong Lu Antong Lu Antong Lu Antong Lu Kezhen Li Kezhen Li Kezhen Li Kezhen Li Cong Huang Cong Huang Cong Huang Bo Yu Bo Yu Bo Yu Bo Yu Bo Yu Weilong Zhong Weilong Zhong Weilong Zhong |
| author_sort | Antong Lu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a82f7790c8884cd8a770c19d917be26b |
| institution | OA Journals |
| issn | 1664-8021 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-a82f7790c8884cd8a770c19d917be26b2025-08-20T01:58:30ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-12-011510.3389/fgene.2024.14591091459109Pathogenesis and management of TRPV3-related Olmsted syndromeAntong Lu0Antong Lu1Antong Lu2Antong Lu3Kezhen Li4Kezhen Li5Kezhen Li6Kezhen Li7Cong Huang8Cong Huang9Cong Huang10Bo Yu11Bo Yu12Bo Yu13Bo Yu14Bo Yu15Weilong Zhong16Weilong Zhong17Weilong Zhong18Department of Dermatology, Peking University Shenzhen Hospital, Shenzhen, ChinaShenzhen Key Laboratory for Translational Medicine of Dermatology, Biomedical Research Institute, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaInstitute of Dermatology, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaShantou University Medical College, Shantou, ChinaDepartment of Dermatology, Peking University Shenzhen Hospital, Shenzhen, ChinaShenzhen Key Laboratory for Translational Medicine of Dermatology, Biomedical Research Institute, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaInstitute of Dermatology, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaShenzhen University Medical School, Shenzhen, ChinaDepartment of Dermatology, Peking University Shenzhen Hospital, Shenzhen, ChinaShenzhen Key Laboratory for Translational Medicine of Dermatology, Biomedical Research Institute, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaInstitute of Dermatology, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaDepartment of Dermatology, Peking University Shenzhen Hospital, Shenzhen, ChinaShenzhen Key Laboratory for Translational Medicine of Dermatology, Biomedical Research Institute, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaInstitute of Dermatology, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaShantou University Medical College, Shantou, ChinaShenzhen University Medical School, Shenzhen, ChinaDepartment of Dermatology, Peking University Shenzhen Hospital, Shenzhen, ChinaShenzhen Key Laboratory for Translational Medicine of Dermatology, Biomedical Research Institute, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaInstitute of Dermatology, Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center, Shenzhen, ChinaOlmsted 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.https://www.frontiersin.org/articles/10.3389/fgene.2024.1459109/fullOlmsted syndromeTRPV3hyperkeratosisitchmutation |
| spellingShingle | Antong Lu Antong Lu Antong Lu Antong Lu Kezhen Li Kezhen Li Kezhen Li Kezhen Li Cong Huang Cong Huang Cong Huang Bo Yu Bo Yu Bo Yu Bo Yu Bo Yu Weilong Zhong Weilong Zhong Weilong Zhong Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics Olmsted syndrome TRPV3 hyperkeratosis itch mutation |
| title | Pathogenesis and management of TRPV3-related Olmsted syndrome |
| title_full | Pathogenesis and management of TRPV3-related Olmsted syndrome |
| title_fullStr | Pathogenesis and management of TRPV3-related Olmsted syndrome |
| title_full_unstemmed | Pathogenesis and management of TRPV3-related Olmsted syndrome |
| title_short | Pathogenesis and management of TRPV3-related Olmsted syndrome |
| title_sort | pathogenesis and management of trpv3 related olmsted syndrome |
| topic | Olmsted syndrome TRPV3 hyperkeratosis itch mutation |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1459109/full |
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