Satisfactory Clinical Response to Erlotinib in a Patient Diagnosed with Olmsted Syndrome

Olmsted syndrome is a rare congenital keratinization disorder characterized by mutilating palmoplantar keratoderma (PPK), often accompanied by flexion deformity, periorificial keratotic plaques, and hair abnormalities. The majority of Olmsted syndrome cases are attributed to mutations in the TRPV3 (Transient receptor potential vanillin 3) gene(1). Herein, we aim to present a sporadic case of Olmsted syndrome with a recurrent c1717G>T p.Gly573Cys variant in the TRPV3 gene, demonstrating clinical improvement with the epidermal growth factor inhibitor Erlotinib.