Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

Olmsted syndrome (OS) is a rare congenital skin disorder caused by gain-of-function mutations in the TRPV3 gene, characterized by severe keratoderma, alopecia, onychodystrophy, and pruritus. This report described the first Korean case of OS in a 3-year-old girl with a heterozygous p.Gly568Val missense mutation in TRPV3, presenting with severe palmoplantar keratoderma, pruritic eczematous lesions, and thin, sparse hair. Genetic analysis confirmed the mutation was de novo. Treatment with systemic acitretin and topical therapies provided moderate improvement. The study highlighted the phenotypic diversity of TRPV3-related OS and suggested potential future treatments targeting TRPV3.