Enchondroma, Ollier and Maffucci
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Direct answer
An enchondroma is a benign cartilage tumour within the medullary cavity of a bone, most often in the small tubular bones of the hand and foot. It shows a central lucent lesion with ring-and-arc calcification and usually comes to light incidentally or after a pathological fracture. Ollier disease has many enchondromas without haemangiomas, whereas Maffucci syndrome adds soft-tissue haemangiomas and carries a much higher risk of chondrosarcoma.
What you must remember
- Site: the medullary cavity of small tubular bones of the hands and feet, especially the proximal phalanges.
- Radiograph: a lucent lesion with punctate or ring-and-arc calcification and a usually intact cortex.
- Presentation: an incidental finding, or a pathological fracture after minor trauma.
- Ollier disease: multiple enchondromas, often asymmetric and sometimes confined to one limb, without haemangiomas.
- Maffucci syndrome: enchondromas together with soft-tissue haemangiomas, which may show phleboliths on radiograph.
- Malignant risk: a solitary enchondroma is low risk, while Ollier disease and Maffucci syndrome carry an increased risk of chondrosarcoma, highest in Maffucci.
- Genetics: Ollier disease and Maffucci syndrome are not inherited in the usual way, and their lesions carry somatic IDH1 or IDH2 mutations.
- Management: observation for asymptomatic lesions, and curettage with grafting for pain, fracture or suspicious change.
Solitary, Ollier and Maffucci compared
The three conditions share the same cartilage lesion, so the difference lies in the number of lesions, the haemangiomas and the risk of malignancy. Solitary enchondroma is common and mostly incidental, whereas the two syndromes change how the patient is followed up for years. The table sets out the features examiners ask about.
| Feature | Solitary enchondroma | Ollier disease | Maffucci syndrome |
|---|---|---|---|
| Lesions | One | Many, often asymmetric | Many, often asymmetric |
| Haemangioma | Absent | Absent | Present, may show phleboliths |
| Malignancy risk | Low | Increased | High |
| Genetic basis | Sporadic | Somatic IDH mutations | Somatic IDH mutations |
The haemangioma is the feature that separates Maffucci syndrome from Ollier disease, so its presence on imaging, especially with phleboliths, should prompt a full search for other lesions. Any child with multiple enchondromas deserves a careful look for soft-tissue lesions before the diagnosis is settled. Plain radiographs often miss soft-tissue haemangiomas, so MRI is the better test for them in suspected Maffucci syndrome.
Where the exam tries to catch you
Most traps come from over-treating a harmless lesion or missing the syndrome behind several lesions.
- Trap: excising every asymptomatic enchondroma Correct: most are observed, and surgery is reserved for pathological fracture or a painful, growing lesion.
- Trap: calling Ollier disease and Maffucci syndrome inherited disorders Correct: both are generally sporadic, arising from somatic IDH mutations, so a family pattern is not the expected finding.
- Trap: missing Maffucci syndrome in a multiple-enchondroma stem Correct: soft-tissue haemangiomas with phleboliths identify Maffucci syndrome, which requires close surveillance for malignant change.
Frequently asked questions
Where do enchondromas most commonly occur?
Enchondromas most commonly occur in the medullary cavity of the small tubular bones of the hands and feet. The proximal phalanges are a typical site, and the lesion is often found incidentally on a radiograph.
How do Ollier disease and Maffucci syndrome differ?
Ollier disease has multiple enchondromas without soft-tissue haemangiomas, whereas Maffucci syndrome has enchondromas together with haemangiomas. Maffucci syndrome carries the much higher risk of malignant transformation.
Why are enchondromas followed up over time?
Enchondromas are followed up because a growing, painful or cortically destructive lesion can rarely transform into chondrosarcoma. Surveillance matters most in Ollier disease and Maffucci syndrome.
How is a pathological fracture through an enchondroma managed?
A pathological fracture through an enchondroma is usually managed by stabilising the bone, with curettage and bone grafting if the lesion is symptomatic. Such fractures commonly heal with protection, and the lesion is then reviewed.