Search

Purpose : We discuss the coexistence of Klippel--Trénaunay--Weber syndrome with various malignancies, the possible histogenetic pathways and therapeutic implications. Patient : We report on a 46-year-old man presenting with increasing pain and swelling of his right lower leg after fracturing his fibula. Since birth he was known as having the uncommon syndrome of Klippel--Trénaunay--Weber of his right lower leg. Methods : Our patient underwent an above-knee amputation for biopsy-proven malignant vascular tumour, first thought to be a composite hemangio-endothelioma and/or angiosarcoma with lung metastases. Results : In the amputated extremity, a vascular malformation was found with tumour showing various components with foci of angiosarcoma adjacent to diffuse neurofibroma and areas with high-grade malignant peripheral nerve sheath tumour. Amputation and palliative chemotherapy were indicated, but he died of pulmonary and cerebral metastases 2 months postoperatively. Discussion : This case describes an angiosarcoma with malignant peripheral nerve sheath tumour developing in a patient with Klippel--Trénaunay--Weber syndrome. A case never described before in literature and probably, as in our case, difficult to diagnose at first biopsy. [ABSTRACT FROM AUTHOR]

Abstract Introduction Mazabraud's syndrome is a rare but well-described disorder characterized by fibrous dysplasia in single or multiple bones associated with one or more soft-tissue myxomas. In this report, we describe what is, to the best of our knowledge, the first case involving an intra-osseous myxoma. This finding supports, and could provide new insight into, the pathological association between fibrous dysplasia and myxomas. Case presentation In this report, we describe the case of a 49-year-old Caucasian woman known for years to have fibrous dysplasia in the left femur and tibia who presented with progressive pain in her left leg and soft swelling in the left quadriceps region. After surgical intervention with excision of the soft-tissue mass, the diagnosis of Mazabraud's syndrome was confirmed. During follow-up, our patient presented with a painless mass located on the lateral side of the left knee, next to a second, intra-osseous lesion with the same characteristics in the left lateral tibial plateau. The histopathological examination was consistent with a soft-tissue intra-osseous myxoma. Conclusion In the international literature, 67 cases of Mazabraud's syndrome have been described so far. To our knowledge, the present case report is the first to describe the combination of polyostotic fibrous dysplasia and intra-muscular as well as intra-osseous myxoma.