Maffucci Syndrome

Maffucci syndrome is a rare, sporadic, non-hereditary mesodermal dysplasia characterized by the combination of multiple enchondromas, hemangiomas, and lymphangiomas. It typically presents in early childhood or adolescence.

Key Points

• Sporadic condition with no hereditary pattern
• Associated with somatic mutations in IDH1/IDH2 genes
• High risk of malignant transformation
• Requires lifelong surveillance
• Early detection crucial for management

Primary Manifestations

Skeletal Features:

• Enchondromas
  • Multiple cartilaginous tumors
  • Predominantly affects
    • Phalanges
    • Metacarpals
    • Metatarsals
    • Long tubular bones
  • Asymmetric distribution
  • Progressive growth during childhood
• Skeletal Deformities
  • Limb length discrepancies
  • Angular deformities
  • Pathological fractures
  • Joint deformities

Vascular Anomalies:

• Hemangiomas
  • Blue-purple subcutaneous lesions
  • Variable size and number
  • May be painful or tender
  • Can involve internal organs
• Lymphangiomas
  • Soft tissue swellings
  • Clear fluid-filled vessels
  • Various anatomical locations

Distribution Pattern:

• Predominantly unilateral
• Lower extremities > Upper extremities
• Trunk involvement possible
• Visceral manifestations

Diagnostic Approach

Clinical Evaluation:

• Physical Examination
  • Skeletal assessment
  • Skin examination
  • Growth monitoring
  • Joint evaluation
• Imaging Studies
  • Radiographs
    • Enchondroma identification
    • Distribution pattern
    • Growth monitoring
  • MRI
    • Soft tissue involvement
    • Vascular mapping
    • Malignant transformation
  • CT Scan
    • Detailed bone structure
    • Surgical planning

Laboratory Studies:

• Genetic Testing
  • IDH1/IDH2 mutation analysis
  • Tissue sampling when indicated
• Histopathology
  • Enchondroma confirmation
  • Vascular lesion characterization
  • Malignancy screening

Treatment Strategies

Conservative Management:

• Pain Management
  • Analgesics
  • Physical therapy
  • Activity modification
• Physical Therapy
  • Joint protection
  • Muscle strengthening
  • Range of motion exercises
  • Gait training
• Occupational Therapy
  • Adaptive techniques
  • Equipment modification
  • Daily activity assistance

Surgical Interventions:

• Orthopedic Surgery
  • Enchondroma removal
  • Fracture fixation
  • Deformity correction
  • Limb lengthening
• Vascular Procedures
  • Hemangioma excision
  • Embolization
  • Sclerotherapy

Preventive Care:

• Regular monitoring
• Early intervention
• Growth tracking
• Psychological support

Major Complications

Malignant Transformation:

• Chondrosarcoma
  • Risk increases with age
  • Estimated 15-50% lifetime risk
  • Regular monitoring essential
• Other Malignancies
  • Angiosarcoma
  • Brain tumors
  • Ovarian tumors

Skeletal Complications:

• Pathological fractures
• Growth disturbances
• Joint deformities
• Chronic pain

Vascular Complications:

• Bleeding
• Thrombosis
• Compression symptoms
• Organ dysfunction

Disease Mechanism

Genetic Basis:

• Somatic Mutations
  • IDH1 (most common)
  • IDH2
  • Mosaic distribution
• Molecular Consequences
  • Altered metabolism
  • Epigenetic changes
  • Cell differentiation defects

Developmental Impact:

• Mesodermal dysplasia
• Abnormal cartilage formation
• Vascular malformation
• Growth plate disruption

Monitoring Guidelines

Regular Screening:

• Skeletal Assessment
  • Annual radiographs
  • Growth monitoring
  • Deformity evaluation
• Vascular Monitoring
  • Regular MRI/MRA
  • Ultrasound when indicated
  • Clinical examination
• Cancer Surveillance
  • Regular imaging
  • Pain assessment
  • Growth pattern changes

Multidisciplinary Care:

• Team Members
  • Orthopedic surgeon
  • Vascular specialist
  • Oncologist
  • Physical therapist
  • Genetic counselor
• Coordination
  • Regular team meetings
  • Treatment planning
  • Progress monitoring