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Medical Science Monitor Basic Research


Desmoid Fibromatosis Presenting as Deep Venous Thrombosis: A Case Report and Discussion

Challenging differential diagnosis, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology

Lisa M. Marks, Susan J. Neuhaus

Australia Department of Phlebology and Laser, Adelaide Plastic Surgery, Adelaide, SA, Australia

Am J Case Rep 2016; 17:967-972

DOI: 10.12659/AJCR.900226

Available online: 2016-12-20

Published: 2016-12-20


BACKGROUND: Venous thromboembolism (VTE), comprising deep vein thrombosis (DVT) and pulmonary embolism (PE), is a common, serious cardiovascular event. Predisposing factors include genetic disorders, immobility, and underlying malignancy. Soft tissue tumors are by contrast rare, but should be included in the differential etiology of DVT, especially when the patient is young and has few thrombotic risk factors.
CASE REPORT: We present a 40-year-old patient whose initial diagnosis was spontaneous DVT of the lower leg, treated conventionally. Subsequently, he developed progressive calf swelling, which was diagnosed as multifocal desmoid fibromatosis, a rare and complex soft tissue tumor.
CONCLUSIONS: DVT is common but soft tissue tumors are rare. The disparity in incidence of these very distinct pathologies may contribute to late diagnosis of occult soft tissue pathology. We discuss the incidence, etiology, pathology, diagnosis, and best management of both desmoid fibromatosis and DVT, which may co-exist in a causative way.

Keywords: Fibromatosis, Aggressive, Lower Extremity, Soft Tissue Neoplasms, Venous Thrombosis