Maffucci syndrome and soft tissue sarcoma: a case report.
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%.


METHODS
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.


CONCLUSIONS
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.
Lissa
Fernando César Toniazzi
FC
Department of Surgical Oncology, Hospital São José, Criciúma, Brazil. flissa@terra.com.br.
Argente
Juliana Sonego
JS
Antunes
Geórgia Nunes
GN
Basso
Franciani de Oliveira
Fde O
Furtado
Janara
J