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Maffucci’s syndrome: A misdiagnosed 9-year-old female patient

Seyed Reza Raiskarami, Hanieh Jafarieh, Reza Shekarriz Foomani, Yahya Aghighi

Am J Case Rep 2011; 12:35-38

DOI: 10.12659/AJCR.881747

Abstract: Background: Maffucci’s syndrome (MS) is a congenital non-hereditary mesodermal dysplasia characterized by numerous mesenchymal neoplasias in the form of enchondromas with secondary joint deformities and multiple soft tissue hemangiomas.
Case Report: In this report we present the case of a 9-year-old female with multiple bone deformities, subsequent inability to walk, multiple enchondromas, and huge enlarging hemangioma on the occiput oral cavity (dorsum of tongue) and her eyelid, limiting her visual field. Malignant changes are almost common in this syndrome, but there was no evidence of malignant changes in our case. The association of these recognizable features, such as multiple enchondromas and hemangioma, together may suggest Maffucci syndrome. In our case, other diagnosis such as metabolic diseases and orthopedic disability postponed the main diagnosis.
Conclusions: Management of Maffucci’s syndrome aims at the relief of symptoms and early detection of malignancies.

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