Work

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

Year: 2025

Type: article

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.

Source: Pediatric Dermatology

DOI: 10.1111/pde.15892

Authors: Gabriel Arias‐Berrios, Laura I. Ortiz‐López, Xavier Sánchez‐Flores

Institutions: University of Puerto Rico System, Central University of the Caribbean

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4407192535

FWCI: 0.552

Cites: 22

Cited by: 1

Related to: 10