| Maffucci syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q78.4 |
| ICD-9 | 756.4 |
| OMIM | 166000 |
| DiseasesDB | 9212 |
| eMedicine | derm/256 |
| MeSH | D004687 |
Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple hemangiomas.[1][2] Also lymphangiomas may be apparent.[citation needed]
Contents |
Presentation
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical. 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.
Management
Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.
Differential diagnosis
In Ollier disease isolated enchondromas are present without the presence of hemangiomas.
Eponym
It is named for Angelo Maffucci.[3]
References
- ^ Maffucci syndrome at Dorland's Medical Dictionary
- ^ Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N (February 2006). "Maffucci's syndrome: a case report". Clin. Rheumatol. 25 (1): 88–91. doi:. PMID 16234991. http://dx.doi.org/10.1007/s10067-005-1101-1.
- ^ synd/1813 at Who Named It?
External links
- Gupta N, Kabra M (February 2007). "Maffucci syndrome". Indian Pediatr 44 (2): 149–50. PMID 17351310. http://www.indianpediatrics.net/feb2007/149.pdf.
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