[Maffucci syndrome: a false venous malformation? A case with hemangioendothelioma with fusiform cells]

Abstract

Background: Maffucci syndrome occurs as a sporadic disease. Progressive onset of both cutaneous vascular lesions (considered to be of venous type) and bony enchondromatous tumors (similar to those seen in Ollier disease) occurs throughout childhood. We report a case of a woman with Maffucci syndrome whose cutaneous vascular lesions revealed spindle cell hemangioendothelioma.

Case report: An italian woman developed severe bone distortion and dwarfism due to multiple enchondromas, first diagnosed as Ollier disease during childhood. At puberty, multiple vascular nodules appeared mainly on the limbs, leading to the diagnosis of Maffucci syndrome. Clinical data suggested the diagnosis of cutaneous venous anomalies: blue color of some nodules, phleboliths, arteriographic pattern. Histopathological examination of the skin specimen showed features of spindle cell hemangioendothelioma, e.g. nodules of dense spindle cell infiltration in combination with dysplastic vessels.

Discussion: The few reports available do not clearly evidence the underlying histopathology progression of the lesions over years in a given patient. Skin lesions are classified among venous malformations. Bony enchondromatous involvement of the limbs is common and reported in 9 out of 10 patients. Both vascular and bony lesions classically develop from childhood to adulthood. Spindle cell hemangioendothelioma is a vascular tumor recently described. Cellular spindling in association with vascular spaces must not be misdiagnosed as Kaposi sarcoma. Some of the reported cases of spindle cell hemangioendothelioma had Maffucci syndrome. It is unknown whether Maffucci syndrome occurs in association with venous malformation or whether it is always present in the cutaneous vascular lesions of the disease.