PubMed · 13134895
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A ZAMORA SAMPER. [Localized chondrodystrophy].. https://pubmed.ncbi.nlm.nih.gov/13134895/
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A case of Maffucci's syndrome in an 18-month old boy is presented, in which the vascular malformation consists of lymphangioma. This is a rare variant of Maffucci's syndrome. So far only six other cases have been reported in which lymphangiomas featured. We believe that the case described here is only the second case to be reported for which a lymphangioma is the only vascular malformation in the syndrome. The literature of the other six cases was reviewed and various features identified enabling this particular disease to be classified as a distinct variant of Maffucci's syndrome.
Maffucci syndrome is a rare dysembryoplasia associating cartilage tumors similar to enchondromas in Ollier's disease and vessel tumors. We report the case of a 50-year-old woman with Maffucci syndrome involving the lower legs who developed a variety of vascular proliferations. This patient had capillary hemangiomas, cavernous angiomas, and lymphangiomas facing the cartilage tumefactions on the thigh. Regular clinical surveillance is required for such patients due to the risk of degeneration of the enchondromas and the angiomas, but also due to the possible occurrence of other malignant tumors besides the cartilage and vessel tumors.
Maffucci's syndrome is a rare congenital non-inherited condition, characterized by multiple enchondromata, cutaneous haemangiomata and more recently spindle-cell haemangioma-endotheliomata. It is associated with an increased risk of malignancy including intracranial chondrosarcomas. Early diagnosis is crucial; screening patients with Ollier's disease is recommended. The treatment of choice for these intracranial cartilaginous tumours is complete surgical excision but this is often difficult to achieve due to difficult access and relationships with neurovascular structures. An alternative treatment is proton-beam therapy. We report a case of Maffucci's syndrome; illustrating the typical clinical and radiological features as well as the known complications of the condition.