Multiple enchondromas in Ollier's disease: A case report

Area of Science:

• Medical Genetics
• Skeletal Dysplasias
• Radiology

Background:

• Ollier's disease is a rare, nonhereditary skeletal disorder.
• Characterized by multiple enchondromas, predominantly unilateral.
• Associated with IDH1 and IDH2 gene mutations.

Observation:

• A 25-year-old male presented with swellings on the left chest wall and acromial regions.
• Clinical and radiological evaluations were performed.
• Multiple enchondromas were identified.

Findings:

• Bone scan and plain X-ray were utilized for assessment.
• These imaging modalities are crucial for managing multiple enchondromas.
• Interval assessment is vital due to the risk of malignant transformation.

Implications:

• Early and accurate diagnosis aids in monitoring Ollier's disease.
• Radiological assessment is key to detecting malignant changes.
• This case underscores the importance of imaging in managing enchondromatosis.