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

Olmsted syndrome (OS) is a rare congenital skin disorder marked by severe keratoderma, alopecia, onychodystrophy, and pruritus. The study reported a case of a 3-year-old Korean girl with OS, presenting with severe palmoplantar keratoderma and pruritic eczematous lesions. Genetic analysis revealed a heterozygous p.Gly568Val missense mutation in the TRPV3 gene, which is involved in keratinocyte functions and hair growth. This was the first reported case in the Korean population with this specific mutation.