Satisfactory clinical response to erlotinib in a patient with Olmsted syndrome

OpenAlex İngilizce

Olmsted syndrome is a rare congenital keratinization disorder characterized by mutilating palmoplantar keratoderma, often accompanied by flexion deformity, periorificial keratotic plaques and hair abnormalities. The majority of Olmsted syndrome cases are attributed to mutations in TRPV3. We report a patient with a sporadic case of Olmsted syndrome with a recurrent c.1717G>T p.Gly573Cys variant in TRPV3, who demonstrated clinical improvement when treated with the epidermal growth factor inhibitor erlotinib.