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. The present study provides information for clinicians about this disease through the use of imaging, physical examinations, clinical manifestations and the treatment strategy used. There is need to summarize the existing cases of this disease around the world and produce an effective framework for the diagnosis, treatment and prevention of
Maffucci syndrome, in order to better understand this disease. The present study reports on a 15-year-old male diagnosed with
Maffucci syndrome. . Due to the risk of malignant
tumor development in the absence of effective treatment, regular and careful observation through monitoring of
tumor markers and imaging studies is important for patients with
Maffucci syndrome. As cases of this disease are rare and case data is limited, it is difficult to create a clear treatment plan. There is an urgent need to establish a case database of
Maffucci syndrome patients and explore its pathogenesis for early diagnosis, treatment and prevention of disease.