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The Maffucci syndrome.
I Ben-Itzhak1, F A Denolf, G A Versfeld
1Department of Orthopaedic Surgery, University of the Witwatersrand, Johannesburg, South Africa.
Journal of Pediatric Orthopedics
|May 1, 1988
Summary
Maffucci syndrome involves hemangiomata and enchondromata, with a 23% cancer risk, primarily chondrosarcoma. Regular monitoring aids early detection of malignant transformation.
Area of Science:
- Medical Genetics
- Oncology
- Skeletal Dysplasias
Background:
- Maffucci syndrome is a rare genetic disorder characterized by multiple enchondromas and subcutaneous hemangiomas.
- It presents a significant risk of malignant transformation, particularly of enchondromas into chondrosarcoma.
Observation:
- The incidence of malignancy in Maffucci syndrome is reported at 23%.
- Malignant transformation of enchondromas to chondrosarcoma accounts for 15.2% of these cases.
Findings:
- Sequential bone scans can be a valuable diagnostic tool when malignant transformation is suspected.
- Despite the risks, 94% of patients can achieve a reasonably normal quality of life.
Implications:
- Periodic patient follow-up is crucial for early detection and management of potential complications.
- While many patients live normal lives, two-thirds may require surgical intervention for enchondromas or related issues.