There is a recognised male predilection.
The clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1st year of life in ~ 1/4th of cases. In just under half of cases , the onset of symptoms is before the age of 6 years, and in 3/4th of cases symptoms start before puberty. The haemangiomas appear as blue subcutaneous nodules which can be emptied by manual compression.
Similar to Ollier disease, the hands and feet are often most affected. The skeletal and vascular lesions in the extremities are usually asymmetrically distributed, with unilateral changes seen in about 50% of patients.
The haemangiomas are mostly located in the subcutaneous soft tissues.
Radiographic appearances are nearly pathognomonic, with multiple enchondromas seen associated with soft tissue swelling and phleboliths.
Enchondromas degenerate into chondrosarcomas in 15 - 51% 3 of cases and soft-tissue haemangiomas to vascular sarcomas in 3 - 5%. Additionally there is also an increase in other malignancies (pancreatic carcinoma and gliomas).
First described in 1881 (prior to Ollier syndrome) by Angelo Maffucci : Italian pathologist (1847 - 1903)
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- 2. Mcdermott AL, Dutt SN, Chavda SV et-al. Maffucci's syndrome: clinical and radiological features of a rare condition. J Laryngol Otol. 2001;115 (10): 845-7. - Pubmed citation
- 3. Unger EC, Kessler HB, Kowalyshyn MJ et-al. MR imaging of Maffucci syndrome. AJR Am J Roentgenol. 1988;150 (2): 351-3. AJR Am J Roentgenol (citation) - Pubmed citation
- 4. Zwenneke flach H, Ginai AZ, Wolter oosterhuis J. Best cases from the AFIP. Maffucci syndrome: radiologic and pathologic findings. Armed Forces Institutes of Pathology. Radiographics. 21 (5): 1311-6. Radiographics (full text) - Pubmed citation
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