Maffucci syndrome: A case report

A 42-year-old woman with Maffucci syndrome is reported. The patient began to develope multiple hard or compressible nodular which sometimes tender on both right foot and left hand after her right calf bone was fractured and deformed at age of 7. Radiographs of the left hand showed multiple radiolucent lesions with osseous expansible remodeling and well-defined round calcifications in the soft-tissue masses (typical of phleboliths). Histopathologic examination on skin specimen of left hand demonstrated the vascular abnormalities consisting of multiple cavernous hemangiomas, spindle cell hemangiomas and thrombi formed and calcified as phleboliths. Immunohistochemistry for above specimen showed that endotheliocyte of the cavernous hemangiomsa and slit-shaped vascular channel and round vacuolated cell of slit-shaped vascular channel were positive staining for CD31, CD34 and the factor VIII. Spindle cell of tissue but vascular channel was positive staining for vimentin and negative for others. These finding are consistent with Maffucci syndrome.