Publication:

Olmsted syndrome: clinical manifestations, genetic insights and therapeutic approaches in a rare keratoderma condition

Olmsted syndrome (OS) is a rare congenital disorder characterized by progressive, mutilating palmoplantar keratoderma, periorificial keratotic plaques, and severe pruritus. First described in 1927, OS presents with a myriad of clinical manifestations, making diagnosis challenging and often delayed. Recent advancements in genetic analysis have identified mutations in the TRPV3 gene as a primary etiological factor, offering new insights into the pathophysiology of the disease. This review aims to provide a comprehensive overview of OS, including its epidemiology, clinical features, genetic basis, and current therapeutic strategies. We also discuss the implications of recent genetic discoveries on future research and potential targeted therapies, underscoring the need for a multidisciplinary approach to manage this debilitating condition.