Maffucci syndrome

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

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 haemangiomas. 

There is a recognised male predilection.

The clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1st 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 haemangiomas 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 haemangiomas are mostly located in the subcutaneous soft tissues.

Associations
Plain radiograph

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

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 haemangiomas to vascular sarcomas in 3-5%. Additionally, there is also an increase in other malignancies (pancreatic carcinoma and gliomas).

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


Bone tumours

The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the paediatric patient.

Vascular tumours and malformations
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Article Information

rID: 1638
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Maffucci's syndrome

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