Most cases of Maffucci syndrome have been sporadic and no specific hereditary form has been proven (Hakak and Azouz 1991).
It occurs in all races, and occurs in both sexes equally.
3. Cutaneous presentation of Maffucci syndrome
Multiple hemangiomas are presented as multiple nodules on the skin of the extremities, which looks like grapes (figure 2). However, the sites of hamangiomas are reported to be the colon and brain (Lee 1999). 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.
4. Melecular genetics of Maffucci syndrome
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
Somatic heterozygous mutations in
5. Management of Maffucci syndrome
Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.
Compression therapy may be useful to control hemangiomas.
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