MEDIASTINAL EPITHELIOID HEMANGIOENDOTHELIOMA IN A PATIENT WITH TYPE-IV EHLERS-DANLOS-SYNDROME - A CASE-REPORT AND REVIEW OF THE LITERATURE

Ehlers-Danlos syndrome (EDS) is a collection of inherited connective t issue disorders with at least 10 types, differentiated on clinical and genetic grounds. Malignancy has been described only rarely in associa tion with the syndrome. Epithelioid hemangioendothelioma (EH) is a rar e endothelial tumor, which displays clinical behavior intermediate bet ween that of hemangioma and angiosarcoma. A case report of a 50-year-o ld man with type IV EDS who was extensively investigated for several y ears for multiple mediastinal nerve palsies and chest pain. Magnetic r esonance imaging (MRI) demonstrated an anterior mediastinal mass, whic h at biopsy showed EH. Subsequent metastatic spread to liver and lungs is unique among reported cases of mediastinal EH. The patient experie nced significant symptomatic improvement from external beam radiothera py (RT) to the mediastinum. After metastatic disease developed, multia gent chemotherapy was administered, but without response. The literatu re is reviewed regarding treatment of EH and the potential problems as sociated with EDS. Although there appears to be no etiological associa tion between EDS and EH, the connective tissue disease clearly contrib uted to a delay in diagnosis and raised concerns regarding RT toleranc e. The potential predisposition to aggressive tumor invasion remains a possibility. In addition, mediastinal EH has the potential to metasta size. and in this case demonstrated resistance to a broad range of che motherapy agents.