Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations and/or spindle-cell hemangiomas ^6,7, generally caused by somatic mutations in IDH1 or IDH2 ⁶.

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 venous malformations.

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 venous malformations appear as blue subcutaneous nodules that can be emptied by manual compression. Spindle-cell hemangiomas are generally firmer and non-compressible.

Location

The 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 venous malformations and/or hemangiomas are mostly located in the subcutaneous soft tissues.

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% ³of cases. Additionally, there is also an increase in other malignancies (pancreatic carcinoma and gliomas).