Diverse clinical manifestations of porokeratosis caused by somatic variants and promoter hypermethylation of <i>FDFT1</i>
A man with porokeratosis in whom both somatic FDFT1 splice-site mutations and promoter hypermethylation contributed to disease development. The phenotypic diversity associated with FDFT1 alterations provides novel insight into the molecular pathogenesis of porokeratosis.
Authors
- Maho Matsuo (ORCID: https://orcid.org/0009-0006-7511-4477)
- Ken Natsuga (ORCID: https://orcid.org/0000-0003-3865-6366)
- Satoru Shinkuma (ORCID: https://orcid.org/0000-0002-6429-1498)
- Xiaoyu Zang (ORCID: https://orcid.org/0000-0003-1804-2885)
- Kayoko Tanaka (ORCID: https://orcid.org/0009-0007-4158-8401)
- Hiroaki Iwata
- Hiroyuki Ikehata
Institutions
- Hokkaido University (JP)
- Gifu University (JP)
- Nara Medical University (JP)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2026-06-17
- DOI
- https://doi.org/10.1093/bjd/ljag255
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00