Maffucci syndrome

Case contributed by Dr Ivan Pedrollo


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

Patient Data

Age: 15
Gender: Male

Bilateral metaphyseal/epiphyseal enchondromas and multiple subcutaneous tumors, some with calcifications, especially on the left, suggestive of large hemangiomas. The findings are consistent with Maffucci syndrome.

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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Case information

rID: 30940
Published: 27th Oct 2014
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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