<scp><i>TRPV3</i></scp> Mutation‐Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature
Olmsted syndrome (OS) is a rare genetic condition characterized by severe palmoplantar and periorificial keratoderma, often linked to TRPV3 gene mutations. This case report describes a 23-month-old Hispanic boy with TRPV3-associated OS who initially showed limited improvement with acitretin but experienced substantial recovery with the addition of erlotinib, an epidermal growth factor receptor (EGFR) inhibitor. A review of the literature indicates that erlotinib has shown efficacy in other cases of OS, making it a promising therapeutic option. This report underscores erlotinib's potential to effectively manage TRPV3 mutation-associated OS, especially when traditional treatments fail.
Authors
- Gabriel E Arias-Berrios
- Xavier Sánchez‐Flores (ORCID: https://orcid.org/0000-0001-8751-5645)
- Laura I. Ortiz‐López (ORCID: https://orcid.org/0009-0006-1549-5722)
Institutions
- University of Puerto Rico System (PR)
- Central University of the Caribbean (PR)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-02-05
- DOI
- https://doi.org/10.1111/pde.15892
- Citations
- 1
- Primary Topic
- Ion Channels and Receptors
- Type
- article
- Field-Weighted Citation Impact
- 1.46