Benign phyllodes tumor associated with Maffucciʹs syndrome

Reports of breast tumors together with Maffucciʹs syndrome are extremely rare in the literature. Maffucciʹs syndrome is an uncommon congenital disease characterized by the association of multiple enchondromas and different types of hemangiomas. To the best of our knowledge, this is the first well-documented case of a benign phyllodes tumor of the breast occurring in a patient with Maffucciʹs syndrome. The patient was an 18-year-old woman who had been diagnosed with Maffucciʹs syndrome at the age of 8 months when multiple enchondromas with subcutaneous hemangiomas of the toes were diagnosed. The tumor presented as a rapidly growing, painful mass of the right breast, which was removed by a wide resection with no apparent recurrence 10 months later. Our data, in addition to those on two other cases of fibroadenomas with this disease that have already been described in the literature, suggest that Maffucciʹs syndrome is probably a generalized mesodermal disorder that can also affect the connective tissue component of the breast.