- Maffucci syndrome
Maffucci syndrome Classification and external resources ICD-10 Q78.4 ICD-9 756.4 OMIM 166000 DiseasesDB 9212 eMedicine derm/256 MeSH D004687
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. The feet are less commonly afflicted. Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphyses of the long bones and are common (26%). The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15-30% in the setting of Maffucci syndrome.Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. Multiple enchondromas may present in 3 disorders: Ollier disease, Maffucci syndrome, and metachondromatosis. It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome. Ollier disease is more common than Maffucci syndrome, and presents with multiple enchondromas often in a unilateral distribution. However, hemangiomas and lymphangiomas are not seen in Ollier disease. Metachondromatosis demonstrates autosomal-dominant transmission and presents with both multiple osteochondromas and enchondromas.
Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.
In Ollier disease isolated enchondromas are present without the presence of hemangiomas.
- Gupta N, Kabra M (February 2007). "Maffucci syndrome". Indian Pediatr 44 (2): 149–50. PMID 17351310. http://www.indianpediatrics.net/feb2007/149.pdf.
- Maffucci Syndrome - Information for the average person
Osteochondrodysplasia (Q77–Q78, 756.4–756.5) Osteodysplasia/
(including dwarfism)enchondromatosis (Ollier disease, Maffucci syndrome)Other dwarfism
Wikimedia Foundation. 2010.