Management of a case of melorheostosis deformity and pain with intramedullary nailing
Melorheostosis is a rare sclerosing bone dysplasia characterized by the thickening and irregular ossification of the affected bones. This disease can affect any bone in the skeletal system, with the long bones of the lower extremities being more frequently involved. Symptoms include pain, oedema, joint stiffness, muscle atrophy and bone deformity. Management of this disease is challenging and not standardized. It depends on the symptoms, and it varies from physical therapy to pharmacological approach or surgery to correct limb deformities, muscle and tendon contractures and joint stiffness. This case report presents the clinical management and treatment of a patient with lower limb deformities due to melorheostosis using retrograde intramedullary nailing of the femurs. The procedure provided stability to the affected bones, resulting in correction of deformities and alleviation of lower limb pain, improving her quality of life.
Authors
- Michaela Veronika Gonfiantini
- Laura Ruzzini
- Andrea Bartuli (ORCID: https://orcid.org/0000-0001-9765-7460)
- Emanuela Asunis
- Pier Francesco Costici
- Grazia M Ubertini
Institutions
- Istituto Ortopedico Rizzoli (IT)
- Bambino Gesù Children's Hospital (IT)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2025-05-16
- DOI
- https://doi.org/10.1016/j.ejmg.2025.105018
- Citations
- 1
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82