Maffucci syndrome

Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations (hemangiomas).

On imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotesque, and soft tissue masses with phleboliths depicting hemangiomas. 

Epidemiology

There is a recognized male predilection.

Clinical presentation

The clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1^st year of life in approximately a quarter of cases. In just under half of cases, the onset of symptoms is before the age of 6 years, and in three-quarters of cases, symptoms start before puberty. The hemangiomas appear as blue subcutaneous nodules which can be emptied by manual compression.

Distribution

Distribution of enchondromas is similar to Ollier disease with the hands and feet most often being affected. The skeletal and vascular lesions in the extremities are usually asymmetrically distributed, with unilateral changes seen in about 50% of patients.

The hemangiomas are mostly located in the subcutaneous soft tissues.

Associations

• juvenile granulosa tumor of the ovary

Radiographic features

Plain radiograph

Radiographic appearances are nearly pathognomonic, with multiple enchondromas seen associated with soft tissue swelling and phleboliths.

Treatment and prognosis 

When there is a shortening of the involved limb, orthopaedical surgery for limb lengthening is usually performed during childhood.   

Complications

Enchondromas degenerate into chondrosarcomas in 15-51% ³ of cases and soft-tissue hemangiomas to vascular sarcomas in 3-5%. Additionally, there is also an increase in other malignancies (pancreatic carcinoma and gliomas).

History and etymology

First described in 1881 (prior to Ollier syndrome) by Angelo Maffucci, an Italian pathologist (1847-1903).