<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.

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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
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article

TRPV3 Mutation‐Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature

Gabriel E Arias-Berrios, Xavier Sánchez‐Flores, Laura I. Ortiz‐López
1 citations
Pediatric Dermatology
Ion Channels and Receptors
1.46
article

TRPV3 Mutation‐Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature

Gabriel E Arias-Berrios, Xavier Sánchez‐Flores, Laura I. Ortiz‐López
article en
1 citations

Abstract

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.

Pediatric DermatologyVol. 42(4)
University of Puerto Rico System (PR), Central University of the Caribbean (PR)
Good health and well-being
Openalex Percentile: Top 25%
Ion Channels and Receptors
1.46
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