Maffucci syndrome and soft tissue sarcoma: a case report
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BioMed Central
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Case report
Maffucci syndrome and soft tissue sarcoma: a case report Fernando César Toniazzi Lissa*1, Juliana Sonego Argente2, Geórgia Nunes Antunes2, Franciani de Oliveira Basso2 and Janara Furtado2 Address: 1Department of Surgical Oncology, Hospital São José, Criciúma, Brazil and 2Department of Internal Medicine, Hospital São José, Criciúma, Brazil Email: Fernando César Toniazzi Lissa* - [email protected]; Juliana Sonego Argente - [email protected]; Geórgia Nunes Antunes - [email protected]; Franciani de Oliveira Basso - [email protected]; Janara Furtado - [email protected] * Corresponding author
Published: 13 January 2009 International Seminars in Surgical Oncology 2009, 6:2
doi:10.1186/1477-7800-6-2
Received: 8 July 2008 Accepted: 13 January 2009
This article is available from: http://www.issoonline.com/content/6/1/2 © 2009 Lissa et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Background Maffucci syndrome was first described in 1881, but its etiology remains unknown. About 200 cases have been described in the literature to date [1,2]. This syndrome is characterized by multiple enchondromas, hemangiomas and, less often, lymphangiomas [1-3]. Enchondromas are benign cartilaginous tumors that may develop in any site, are most frequently found in phalanges and long bones, but may also affect the tibia, fibula, humerus, ribs or cranium. Soft tissue tumors usually develop with the bone lesions [1,3].
This congenital mesodermal hyperplasia is nonhereditary, and patients are usually asymptomatic at birth. Symptoms usually develop in puberty [2]. The risk of malignant change is about 25%. Sarcomatous transformation may be seen in bones and soft tissue lesions, but is more frequently
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