Maffucci syndrome

The Maffucci syndrome is a congenital non hereditary mesodermal dysplasia characterised by multiple enchondromas with soft-tissue cavernous haemangiomas. 

Epidemiology

There is a recognised male predilection. 

Clinical presentation

The clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1^st year of life in ~ 1/4^th of cases. In just under half of cases , the onset of symptoms is before the age of 6 years, and in 3/4^th of cases symptoms start before puberty. The haemangiomas appear as blue subcutaneous nodules which can be emptied by manual compression. 

Distribution 

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

The haemangiomas are mostly located in the subcutaneous soft tissues.

Associations

• juvenile granulosa tumour of the ovary

Radiographic features

Plain film

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

Complications

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

Etymology

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