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Mafucci Syndrome


Syndrome characterized by the association of venous cavernous malformations with dyschondroplasia. Affected individuals generally appear normal at birth. In infancy, multiple capillary and cavernous hemangiomas appear, presenting as blue or purple, soft, occasionally tender tumours. Grotesque grape-like masses may develop on the hands and feet. Simultaneously the patient develops enchondromas presenting as hard nodular lesions on the extremities. Marked bony deformities complicated by pathological fractures may be seen. The disease has a high malignant potential, chondrosarkoma being the most common malignant tumour.


Mafucci Syndrome, Dyschondroplasia Haemangiomatosa