Case report: Multiple facial trichoepitheliomas caused by p.Val835SerfsTer52 variant of CYLD gene
The new <i>CYLD</i> gene variant p.Val835SerfsTer52 causes the development of multiple familial trichoepitheliomas in BSS and confirms the hypothesis of the association of this gene variant with loss-of-function mutations. We have verified that removing multiple trichoepitheliomas simultaneously with a CO<sub>2</sub> laser does not impede the pathological process. Therefore, hopes are placed on targeted therapy, which is currently not developed for this disease.
Authors
- Anastasiia A. Buianova (ORCID: https://orcid.org/0000-0001-7894-9222)
- T. A. Gaydina (ORCID: https://orcid.org/0000-0001-8485-3294)
- Olga I. Patsap (ORCID: https://orcid.org/0000-0003-4620-3922)
Institutions
- Pirogov Russian National Research Medical University (RU)
- Research Center of Neurology (RU)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2024-09-30
- DOI
- https://doi.org/10.3389/fmed.2024.1458723
- Citations
- 2
- Primary Topic
- Cancer and Skin Lesions
- Type
- article
- Field-Weighted Citation Impact
- 1.07
Funders
- Ministry of Science and Higher Education of the Russian Federation