IS MAFFUCCI-SYNDROME REALLY A VENOUS MALFORMATION - A CASE WITH SPINDLE-CELL HEMANGIOENDOTHELIOMA

Background. Maffucci syndrome occurs as a sporadic disease. Progressiv e onset of both cutaneous vascular lesions (considered to be of venous type) and bony enchondromatous tumors (similar to those seen in Oilie r disease) occurs throughout childhood. We report a case of a woman wi th Maffucci syndrome whose cutaneous vascular lesions revealed spindle cell hemangioendothelioma. Case report. An italian woman developed se vere bone distortion and dwarfism due to multiple enchondromas, first diagnosed as Oilier disease during childhood. AT puberty, multiple vas cular nodules appeared mainly on the limbs, leading to the diagnosis o f Maffucci syndrome. Clinical data suggested the diagnosis of cutaneou s venous anomalies: blue color of some nodules, phleboliths, arteriogr aphic pattern. Histopathological examination of the skin specimen show ed features of spindle cell hemangioendothelioma, e.g. nodules of dens e spindle cell infiltration in combination with dysplastic vessels. Di scussion. The few reports available do not clearly evidence the underl ying histopathology progression of the lesions over years in a given p atient. Skin lesions are classified among venous malformations. Bony e nchondromatous involvement of the limbs is common and reported in 9 ou t of 10 patients. Both vascular and bony lesions classically develop f rom childhood to adulthood. Spindle cell hemangioendothelioma is a vas cular tumor recently described. Cellular spindling in association with vascular spaces must not be misdiagnosed as Kaposi sarcoma. Some of t he reported cases of spindle cell hemangioendothelioma had Maffucci sy ndrome. It is unknown whether Maffucci syndrome occurs in association with venous malformation or whether it is always present in the cutane ous vascular lesions of the disease.