Pathogenesis and Management of TRPV3-Related Olmsted Syndrome

Olmsted syndrome (OS) is a rare skin disorder caused by mutations in the TRPV3 gene, leading to symptoms such as hyperkeratosis, dermatitis, hair loss, itching, and pain. The review discusses the role of TRPV3 mutations in OS, highlighting that these mutations increase channel activity, causing calcium overload and keratinocyte apoptosis. Traditional treatments offer limited relief, but EGFR and mTOR inhibitors, like erlotinib and sirolimus, show promise in managing symptoms by targeting molecular pathways. Additionally, TRPV3 antagonists and certain herbal extracts may alleviate symptoms, though their low selectivity limits reliability. Further research is needed to develop more effective and individualized treatments.