Case Report: Novel p.Val306Met Missense Mutation in TRPV3 in a Case of Olmsted Syndrome Accompanied by Squamous Cell Carcinoma

This case report presents a 50-year-old Chinese male with Olmsted syndrome (OS) due to a novel p.Val306Met missense mutation in the TRPV3 gene, which has not been previously documented in OS. The patient developed severe palmoplantar keratoderma and squamous cell carcinoma (SCC) on the right sole, necessitating foot amputation. Genetic analysis confirmed the mutation, which was absent in the patient's daughter and healthy controls. The study underscores the importance of vigilant monitoring of OS patients for SCC development and highlights the limited effectiveness of current treatments, calling for further research to understand the mutation's pathogenicity and develop effective therapies.