Maffucci syndrome
Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations (hemangiomas).
On imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotesque, and soft tissue masses with phleboliths depicting hemangiomas.
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Epidemiology
There is a recognized male predilection.
Clinical presentation
The clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1st year of life in approximately a quarter of cases. In just under half of cases, the onset of symptoms is before the age of 6 years, and in three-quarters of cases, symptoms start before puberty. The hemangiomas appear as blue subcutaneous nodules that can be emptied by manual compression.
Distribution
The distribution of enchondromas is similar to Ollier disease with the hands and feet most often being affected. The skeletal and vascular lesions in the extremities are usually asymmetrically distributed, with unilateral changes seen in about 50% of patients.
The hemangiomas are mostly located in the subcutaneous soft tissues.
Associations
Radiographic features
Plain radiograph
Radiographic appearances are nearly pathognomonic, with multiple enchondromas seen associated with soft tissue swelling and phleboliths.
Treatment and prognosis
When there is a shortening of the involved limb, orthopaedical surgery for limb lengthening is usually performed during childhood.
Complications
Enchondromas degenerate into chondrosarcomas in 15-51% 3 of cases and soft-tissue hemangiomas to vascular sarcomas in 3-5%. Additionally, there is also an increase in other malignancies (pancreatic carcinoma and gliomas).
History and etymology
First described in 1881 (prior to Ollier syndrome) by Angelo Maffucci, an Italian pathologist (1847-1903).
Related Radiopaedia articles
Bone tumours
The differential diagnosis for bone tumors is dependent on the age of the patient, with a very different set of differentials for the pediatric patient.
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bone tumors
- bone-forming tumors
- cartilage-forming tumors
- fibrous bone lesions
- bone marrow tumors
- other bone tumors or tumor-like lesions
- adamantinoma
- aneurysmal bone cyst
- benign fibrous histiocytoma
- chordoma
- giant cell tumor of bone
- Gorham massive osteolysis
- hemangioendothelioma
- haemophilic pseudotumor
- intradiploic epidermoid cyst
- intraosseous lipoma
- musculoskeletal angiosarcoma
- musculoskeletal hemangiopericytoma
- primary intraosseous hemangioma
- post-traumatic cystic bone lesion
- simple bone cyst
-
skeletal metastases
- morphology
- location
- impending fracture risk
- staging
- approach
Vascular tumours and malformations
-
vascular malformations and tumors
- classifications
- vascular tumors
-
hemangioma
- infantile hemangioma
- congenital hemangiomas (RICH and NICH)
- tufted angioma (with or without Kasabach Merritt syndrome)
- Kaposiform hemangioendothelioma (with or without Kasabach Merritt syndrome)
- spindle cell hemangioendothelioma
- other, rare hemangioendotheliomas
- dermatologic acquired vascular tumors
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hemangioma
- slow-flow vascular malformations
- capillary malformation (CM)
- venous malformation (VM)
- common sporadic venous malformation
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cavernous venous malformation (cavernoma or cavernous hemangioma)
- cerebral cavernous venous malformation
- orbital cavernous venous malformation
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hepatic cavernous venous malformation (hepatic hemangioma)
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atypical hepatic venous malformation (atypical hepatic hemangioma)
- giant hepatic venous malformation (giant hepatic hemangioma)
- flash filling hepatic venous malformation (flash filling hepatic hemangioma)
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atypical hepatic venous malformation (atypical hepatic hemangioma)
- splenic cavernous venous malformation (splenic hemangioma)
- breast venous malformation (breast hemangioma)
- retroperitoneal venous malformation
- soft tissue venous malformation
- primary intraosseous venous malformation
- cardiac venous malformations
-
cavernous venous malformation (cavernoma or cavernous hemangioma)
- Bean syndrome
- familial cutaneous and mucosal venous malformation
- glomuvenous malformation (glomangioma)
- Maffucci syndrome
- common sporadic venous malformation
- lymphatic malformation (LM)
- fast flow vascular malformations
- arterial malformation
- ectasia
- coarctation
- aneurysm
- arterial malformation
- arteriovenous fistulae (with one or more shunts)
- arteriovenous malformations (with a nidus of multiple shunts)