Descriptive Analysis of Surgeries in Patients With Multiple Osteochondromas

Summary

Multiple Osteochondromas (MO), also known as Multiple Cartilaginous Exostoses, is an autosomal dominant skeletal disorder with an incidence of approximately 1 in 50,000 in Western populations. Most cases are associated with pathogenic variants in the EXT1 and EXT2 genes, which lead to a systemic reduction of heparan sulfate, causing abnormalities in bone growth and other physiological processes. Symptoms typically appear in childhood and include the development of bony protrusions often associated with pain due to compression of muscles and nerves. Patients are generally shorter than average and may experience dislocations, subluxations, reduced motor function, and skeletal deformities such as genu valgum, limb asymmetry, and scoliosis. The most severe complication is malignant transformation into chondrosarcoma, occurring in 0.5-5% of adult patients. Diagnosis is mainly based on imaging techniques (X-ray, CT, MRI, ultrasound) and is confirmed by the presence of at least two osteochondromas after excluding other conditions. Following diagnosis, patients or their caregivers often raise questions regarding disease progression, the number and type of surgical interventions required, and differences between pediatric and adult surgical approaches. This retrospective observational cohort study aims to characterize the number and types of surgical procedures performed in MO patients at a European referral center, the Rizzoli Orthopaedic Institute.

Eligibility

Inclusion Criteria:

* Patients diagnosed with multiple osteochondromas who underwent surgery at the IOR between January 1, 2012, and February 28, 2025.
* Patients of both sexes, regardless of age.

Exclusion Criteria:

\- Patients with conditions that are part of the differential diagnosis for the condition under study, such as enchondromatosis and solitary exostosis.

Conditions2

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