Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype–phenotype correlation analysis
Our large cohort study expands the genetic variant spectrum of porokeratosis, clarifies gene subtype-specific somatic 'second-hit' mechanisms and establishes clinically relevant genotype-phenotype correlations. These findings enable porokeratosis subtyping guided by genetic testing and provide a foundation for developing molecularly integrated scoring systems to refine risk-stratified management.
Authors
- Q L Chen (ORCID: https://orcid.org/0009-0007-1550-7348)
- Y. T. Gu (ORCID: https://orcid.org/0000-0002-9648-4913)
- Yuan Meng (ORCID: https://orcid.org/0000-0002-9591-0052)
- Shengru Zhou (ORCID: https://orcid.org/0000-0001-6761-1584)
- Xiaohui Zhang (ORCID: https://orcid.org/0000-0003-3471-0038)
- Min Li (ORCID: https://orcid.org/0009-0003-9757-6822)
- Xuejun Zhang (ORCID: https://orcid.org/0000-0001-6881-9504)
- Jingwen Zhang (ORCID: https://orcid.org/0000-0002-6064-1374)
- Yifan Yang (ORCID: https://orcid.org/0000-0003-0947-5603)
- Zheng Ji (ORCID: https://orcid.org/0000-0001-8884-140X)
- Y.-Z. Wang (ORCID: https://orcid.org/0000-0001-9705-9751)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Soochow University (CN)
- Suzhou Institute of Systems Medicine (CN)
- Second Affiliated Hospital of Soochow University (CN)
- First Affiliated Hospital of Soochow University (CN)
- The Fourth Affiliated Hospital of Soochow University (Suzhou Dushu Lake Hospital)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1093/bjd/ljaf461
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00