Maffucci syndrome

Maffucci syndrome

Description, Causes and Risk Factors:

Enchondromas of the limbs in association with venous and lymphaticovenous malformation; propensity to develop other benign or malignant tumors.

Maffucci syndrome (MS) is a rare congenital nonhereditary disorder manifested by endochromatosis (dyschondroplasia) and soft tissue hemangiomas, and having a high incidence of malignant transformation. Until now, no more than 120 cases have been reported in the Literature. The presence of cyst-like bone lesions and multiple phleboliths constitute the characteristic plain roentgenographic appearance. An earlier report suggested that this entity probably represents a mesenchymal dysplasia.

Most cases of Maffucci syndrome have been sporadic and no specific hereditary form has been proven.

The responsible genes for Maffucci syndrome have not been found. However, some studies were reported for multiple enchondromatosis. In enchondromas and chondrosarcomas, mutations of the PTHR1 gene was reported to be a candidate gene, however, subsequent studies could not confirm it. Somatic heterozygous mutations in IDH1 or IDH2 were reported in enchondromas and spindle cell hemangiomas. Ten cases of 13 with Maffucci syndrome carried IDH1 or IDH2 mutations in their tumors. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were absent in DNA isolated from the blood, muscle, or saliva of the subjects. Therefore, these mutations are believed to be somatic.

Maffucci syndrome is a rare genetic disorder that affects both males and females.


Maffucci syndrome ischaracterized by benign enlargements of cartilage(enchondromas); bone deformities; and dark,irregularly shaped hemangiomas. Multiple hemangiomas are presented as multiple nodules on the skin of the extremities, which looks like grapes. However, the sites of hemangiomas are reported to be the colon and brain. Multiple enchondromas present as a subcutaneous nodules fix to the underlining bones. Bleeding from the hemangiomas is clinically important and difficult to manage. Complete resection is usually impossible. Compression therapy is recommended.


Radiologic evaluation of suspicious areas should be conducted. Evidence of malignant transformation includes cortical destruction, endosteal cortical erosion, and zones of lucency within a previously mineralized area. A biopsy should then be performed on suspicious radiologic areas. Needle biopsy should provide a diagnosis. Bone biopsy may be needed if the enchondroma is undergoing any changes.CT and/or MRI can help in the evaluation of the lesion and its surrounding soft tissue.Chondrosarcomas, the most common malignant neoplasm associated with Maffucci syndrome, are diagnosed by poorly differentiated pleomorphic chondrocytes.


Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities. Compression therapy may be useful to control hemangiomas.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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