Case report

Maffucci syndrome and soft tissue sarcoma: a case report

Fernando César Toniazzi Lissa¹ , Juliana Sonego Argente² , Geórgia Nunes Antunes² , Franciani de Oliveira Basso² and Janara Furtado²

¹  Department of Surgical Oncology, Hospital São José, Criciúma, Brazil

²  Department of Internal Medicine, Hospital São José, Criciúma, Brazil

author email corresponding author email

International Seminars in Surgical Oncology 2009, 6:2doi:10.1186/1477-7800-6-2

Published:	13 January 2009

Abstract

Background

Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%.

Case presentation

The initial investigation of the case reported here focused on the diagnosis and treatment of malignancy, and the first diagnostic hypothesis was thrombosed hemangioma. After histopathologic confirmation of soft tissue sarcoma, examinations were performed to stage the tumor and enchondromas were found in ribs. The final diagnosis was Maffucci syndrome with malignant transformation.

Conclusion

Treatment should aim at symptom relief and early detection of malignancies; no therapy is indicated for asymptomatic patients. As in the case reported here, bone or soft tissue lesions that grow or become painful should be biopsied.