Melorheostosis: a case report

Abstract

Melorheostosis, or Léri's disease, is a rare sclerosing bone dysplasia characterized by irregular bone growth and progressive cortical hyperostosis, usually limited to a single limb. Its etiology remains unclear, with somatic mutations in the MAP2K1 gene described as possible culprits. Clinically, it manifests as chronic pain, joint stiffness, and functional limitation, and may be an incidental finding. We present the case of a 42-year-old woman with persistent pain in her left foot. Imaging studies revealed osteocondensation changes consistent with melorheostosis. Conservative treatment with bisphosphonates and physical therapy allowed symptomatic stabilization. Melorheostosis is a rare and challenging pathology to diagnose. The lack of targeted therapy requires a multidisciplinary approach focused on symptomatic control and functional preservation, and further research is needed to develop specific therapeutic strategies. Level of Evidence IV; Type of study: Case report.