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Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Also lymphangiomas may be apparent.
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical. Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphses of the long bones and are common (26%).
The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15-30% in the setting of Maffucci syndrome.
Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.
In Ollier disease isolated enchondromas are present without the presence of hemangiomas.
It is named for Angelo Maffucci.[1]
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