Maffucci syndrome

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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