A rare presentation of Maffucci syndrome

Maffucci syndrome is an extremely rare disease which can manifest symptoms as early as childhood. It is estimated that there have been <300 cases reported globally. However, this number is likely to be an underestimate. Maffucci syndrome is characterized by multiple enchondromas and soft tissue hemangiomas, which can cause growth and developmental malformations. In addition to bone deformities, pathological fractures and a loss of mobility, patients with Maffucci syndrome may develop secondary central chondrosarcoma and have a higher risk of developing non-skeletal malignant tumors, such as gliomas and mesenchymal ovarian tumors. This report provides information about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used in a case of 15-year-old male diagnosed with Maffucci syndrome. Read the full article here.