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Maffucci syndrome

Dr Donna D'Souza ◉ et al.

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.

On this page:

Article:

Epidemiology
Clinical presentation
Radiographic features
Treatment and prognosis
History and etymology
Related articles
References

Images:

Cases and figures
Imaging differential diagnosis

Epidemiology

There is a recognized male predilection.

Clinical presentation

The clinical symptoms of Maffucci syndrome are present at birth or manifest in the 1^st 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 which can be emptied by manual compression.

Distribution

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

juvenile granulosa tumor of the ovary

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% ³of 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).

Quiz questions

References

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.

bone tumors
- bone-forming tumors
- cartilage-forming tumors
- fibrous bone lesions
- bone marrow tumors
- other bone tumors or tumor-like lesions
- skeletal metastases
  - morphology
  - location
  - impending fracture risk
    - Harrington criteria
    - Mirel classification
- staging
  - AJCC staging of musculoskeletal tumors
  - Enneking surgical staging system

Vascular tumours and malformations

vascular malformations and tumors
- classifications
  - ISSVA classification of vascular anomalies
  - Hamburg classification system of vascular malformations
- 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
- slow flow vascular malformations
  - capillary malformation (CM)
  - venous malformation (VM)
    - common sporadic venous malformation
      - cavernous venous malformation (cavernoma or cavernous hemangioma)
        
        cerebral cavernous venous malformation
        Zabramski classification
        
        orbital cavernous venous malformation
        
        hepatic cavernous venous malformation (hepatic hemangioma)
        atypical hepatic venous malformation (atypical hepatic hemangioma)
        
        giant hepatic venous malformation (giant hepatic hemangioma)
        
        flash filling hepatic venous malformation (flash filling 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
    - Bean syndrome
    - familial cutaneous and mucosal venous malformation
    - glomuvenous malformation (glomangioma)
    - Maffucci syndrome
  - lymphatic malformation (LM)
- fast flow vascular malformations
  - arterial malformation
    - ectasia
    - coarctation
    - aneurysm
- arteriovenous fistulae (with one or more shunts)
- arteriovenous malformations (with a nidus of multiple shunts)

Article information

rID: 1638

System: Musculoskeletal

Section: Syndromes

Tag: cases

Synonyms or Alternate Spellings:

Maffucci's syndrome

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Cases and figures

Case 1Case 1

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Multiple haemangi...

Case 2Case 2

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