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.

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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
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Management of a case of melorheostosis deformity and pain with intramedullary nailing

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article

Management of a case of melorheostosis deformity and pain with intramedullary nailing

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article en
1 citations

Abstract

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.

European Journal of Medical GeneticsVol. 75
Istituto Ortopedico Rizzoli (IT), Bambino Gesù Children's Hospital (IT)
Zero hunger
Openalex Percentile: Top 16%
Dermatological and Skeletal Disorders
1.82
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