Maffucci Syndrome
Synonyms: Enchondromatosis with hemangiomas
SYSTEMIC GENETIC Syndrome
Quick Facts
Behaviour
Not set
Category
Syndrome
Synonyms
Enchondromatosis with hemangiomas
Category
Syndrome
Gender
M = F
Tissue of Origin
Cartilage
Epidemiology
- Rare disorder combining multiple enchondromas with soft tissue hemangiomas
- IDH1/2 mutations acquired (not inherited)
- Sporadic presentation
- Very High malignancy risk (50% lifetime: chondrosarcoma, other cancers)
Clinical Features
- Multiple enchondromas (like Ollier)
- Cutaneous and subcutaneous hemangiomas
- Limb swelling and deformity
- Cafe-au-lait spots sometimes present
- Pain if lesions enlarging
Location
- Long bones: multiple enchondromas
- Soft tissues: Vascular malformations
- Often asymmetric distribution
Imaging
- Skeletal survey: enchondromas
- MRI: assess Bone and soft tissue lesions
- Vascular imaging (MRA/CTA) if hemangiomas large
Pathology
- Enchondromas histologically
- Vascular malformations in soft tissues
- Monitor for chondrosarcoma
Genetics
- IDH1/2 somatic mutations (acquired, not germline)
- Genetic testing may identify mutations
- Remains unclear if true heritable condition
Treatment
- Observation of stable lesions
- Surgical excision if symptomatic
- Enhanced surveillance for malignancy
Prognosis
- Very High malignancy risk (50% lifetime)
- Chondrosarcoma, ovarian cancer, pancreatic cancer, others
- Requires aggressive surveillance
Key Points
- SYSTEMIC GENETIC Syndrome
- Combination enchondromatosis + hemangiomas
- VERY High malignancy risk
- IDH1/2 mutations acquired
Workup - Blood Tests
No routine blood tests
Workup - Local Imaging
- Full-body skeletal survey: baseline
- MRI pelvis: screen for ovarian cancers (elevated risk)
- Annual imaging: monitor for transformation
Workup - Biopsy
If concern for chondrosarcoma
Workup - Staging
- Baseline full-body imaging
- Consider baseline pelvic MRI
Workup - Other
- Genetics consultation
- Aggressive cancer surveillance (ovarian, pancreatic, others)
- Patient education on very High malignancy risk
Follow-up Summary
- 1
Very frequent surveillance
every 3-6 months imaging of lesions
- 2
Annual full-body cancer screening (difficult)
- 3
MRI pelvis for ovarian cancer screening
- 4
Careful assessment for Malignant transformation
rapid growth, pain, imaging aggression
Medical disclaimer
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