Maffucci syndrome

Case contributed by Dr Ivan Pedrollo

Presentation

Shortened left lower limb and bluish subcutaneous nodules on the distal extremities and oropharynx.

Patient Data

Age: 15 years
Gender: Male
X-ray

Shortened left lower limb with multiple bilateral enchondromas in the epiphyseal/metaphyseal regions of the tibia and fibula, associated with multiple subcutaneous tumors, some with calcifications, with asymmetrical distribution, especially on the left foot, suggestive of large hemangiomas. The findings are consistent with Maffucci syndrome.

The last radiograph shows metallic surgical screw in the tibia after osteotomy.

Case Discussion

This 15-year-old male patient is followed up in our hospital since his birth, where an asymmetry between length of the legs was noticed. Early radiological studies showed multiple radiolucent lesions in the distal ends of the tibias and fibulas, consistent with enchondromas. The first diagnosis considered was Ollier disease. Subsequently, a lower right tibial osteotomy was performed in order to establish symmetry between the size of the legs.

When the patient turned 6 years old, bluish subcutaneous nodules were seen, mainly on the left foot and oropharynx, some that also causing bleeding -  which were diagnosed as hemangiomas. 
This combination of findings - enchondromatosis and soft tissue hemangiomas - is almost pathognomonic of Maffucci syndrome.

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