ENCHONDROMATOSIS - OLLIER DISEASE AND MAFFUCCI SYNDROME
Multiple Enchondromas | IDH Mutations | High Malignancy Risk | Lifelong Surveillance Required
ENCHONDROMATOSIS SYNDROMES
Critical Must-Knows
- Ollier disease - multiple unilateral enchondromas, 25-30% malignant transformation by age 40
- Maffucci syndrome - enchondromas plus hemangiomas, nearly 100% lifetime malignancy risk
- IDH1 and IDH2 somatic mutations found in 87% of enchondromas and secondary chondrosarcomas
- Lifelong surveillance required with annual clinical exam and imaging of symptomatic lesions
- Pain, growth, or soft tissue mass in any lesion requires urgent MRI and biopsy consideration
Examiner's Pearls
- "Ollier disease is sporadic (somatic IDH mutations), NOT inherited - low recurrence risk
- "Maffucci syndrome patients develop both chondrosarcoma (from enchondromas) and angiosarcoma (from hemangiomas)
- "Deformities common: limb length discrepancy, angular deformity, pathological fractures
- "Low threshold for biopsy - any changing lesion is malignant until proven otherwise
Critical Enchondromatosis Exam Points
Malignant Transformation Risk
Ollier disease carries 25-30% risk of chondrosarcoma by age 40. Maffucci syndrome has nearly 100% lifetime malignancy risk - both chondrosarcoma from enchondromas and angiosarcoma from hemangiomas. Any new pain, growth, or soft tissue mass requires urgent MRI and biopsy.
Unilateral Distribution
Ollier disease shows unilateral or predominantly one-sided distribution of enchondromas. If bilateral and symmetric, consider Maffucci syndrome (if hemangiomas present) or metachondromatosis (if osteochondromas present).
IDH Mutations
IDH1 and IDH2 somatic mutations found in 87% of enchondromas and chondrosarcomas in Ollier/Maffucci. These are NOT germline mutations - disease is sporadic, not inherited. Mutations disrupt cartilage differentiation leading to multiple cartilage rests.
Surveillance Protocol
Annual clinical examination with skeletal survey. MRI any symptomatic lesion - pain, growth, or palpable mass. Low threshold for biopsy of suspicious lesions. Early detection of malignant transformation is critical for limb salvage and survival.
Ollier Disease vs Maffucci Syndrome vs Solitary Enchondroma
| Feature | Solitary Enchondroma | Ollier Disease | Maffucci Syndrome |
|---|---|---|---|
| Number of lesions | Single lesion | Multiple (5 or more typical) | Multiple plus hemangiomas |
| Distribution | Usually hand/foot | Unilateral or asymmetric | Asymmetric, any bone |
| Malignancy risk | 1-2% lifetime | 25-30% by age 40 | Nearly 100% lifetime |
| Genetics | Sporadic, usually no mutation | Somatic IDH1/IDH2 (87%) | Somatic IDH1/IDH2 (87%) |
| Surveillance | None required if asymptomatic | Annual exam and imaging | Aggressive annual surveillance |
| Deformities | Rare | Common (LLD, angulation) | Common plus vascular lesions |
At a Glance
Enchondromatosis encompasses multiple enchondroma syndromes with high malignant transformation risk. Ollier disease features multiple unilateral enchondromas with 25-30% chondrosarcoma transformation by age 40. Maffucci syndrome combines enchondromas with soft tissue hemangiomas and carries nearly 100% lifetime malignancy risk—both chondrosarcoma (from cartilage) and angiosarcoma (from hemangiomas). Both are caused by somatic IDH1/IDH2 mutations (87%)—sporadic, not inherited. Lifelong surveillance is mandatory: annual clinical examination, low threshold for MRI of any symptomatic lesion, and urgent biopsy consideration for pain, growth, or soft tissue mass. Common skeletal complications include limb length discrepancy, angular deformity, and pathological fractures.
OLLIEROllier Disease Features
Memory Hook:OLLIER disease = One-sided Lesions with high malignancy Risk!
MAFFUCCIMaffucci Syndrome Red Flags
Memory Hook:MAFFUCCI syndrome = Multiple tumors with Frightening malignancy risk!
WATCHSurveillance Protocol - WATCH
Memory Hook:WATCH closely for malignant transformation - patient's life depends on it!
Overview and Epidemiology
Definition and Classification
Enchondromatosis refers to syndromes characterized by multiple enchondromas. The two main types are:
Ollier disease: Multiple enchondromas with unilateral or asymmetric distribution, NO soft tissue hemangiomas.
Maffucci syndrome: Multiple enchondromas PLUS soft tissue hemangiomas (spindle cell hemangiomas).
Both are sporadic conditions caused by somatic mutations in IDH1 or IDH2 genes, NOT inherited. Recurrence risk in offspring is very low.
Ollier Disease Epidemiology
- Incidence: Approximately 1 in 100,000 live births
- Age at presentation: Childhood (under 10 years typical)
- Sex distribution: Equal male to female
- Distribution: Unilateral or markedly asymmetric
- Malignancy risk: 25-30% by age 40 years
Maffucci Syndrome Epidemiology
- Incidence: Even rarer than Ollier (1 in 1,000,000)
- Age at presentation: Childhood, often younger than Ollier
- Hemangiomas: Spindle cell type, visible as soft tissue masses
- Malignancy risk: Nearly 100% lifetime risk
- Tumor types: Chondrosarcoma AND angiosarcoma
Historical Context
The term Ollier disease was named after French surgeon Louis Ollier who described multiple enchondromatosis in 1899. Maffucci syndrome was described by Italian pathologist Angelo Maffucci in 1881 who recognized the association between enchondromas and hemangiomas.
Historically, these conditions were poorly understood and outcomes were dismal. Modern understanding of IDH mutations (discovered 2011) and improved surveillance protocols have enabled earlier detection of malignant transformation and improved survival.
Pathophysiology
IDH1 and IDH2 Mutations
Critical Discovery - IDH Mutations
In 2011, Pansuriya et al discovered that 87% of enchondromas and secondary chondrosarcomas in Ollier disease and Maffucci syndrome harbor somatic mutations in IDH1 (most common) or IDH2 genes. These are:
- Somatic mutations (NOT germline) - explains sporadic occurrence
- Mosaic distribution - mutations occur early in development affecting specific tissue populations
- Present in BOTH benign and malignant lesions - suggests additional genetic hits required for malignant transformation
- Same mutations seen in gliomas - explains increased brain tumor risk in Maffucci syndrome
Key point: IDH mutations are present in enchondromas from birth but malignant transformation requires additional genetic changes (TP53, RB1 mutations) that accumulate over time.
Pathogenesis of Enchondromatosis
Somatic IDH mutation occurs in mesenchymal stem cell during early development. Mutation causes abnormal accumulation of 2-hydroxyglutarate (2-HG) which disrupts cartilage differentiation and normal enchondral ossification.
Multiple cartilage rests persist in medullary cavity instead of ossifying. These appear as enchondromas on X-ray. Growth plate abnormalities lead to limb length discrepancy and angular deformities as child grows.
Accumulation of additional mutations (TP53, RB1, CDKN2A) in some lesions drives malignant transformation. Pain, growth, cortical breakthrough, and soft tissue mass indicate transformation to chondrosarcoma.
For Maffucci syndrome patients, hemangiomas may also transform to angiosarcoma. Multiple tumor sites possible. Prognosis poor due to multifocal disease and late presentation.
Histopathology
Benign Enchondroma (Ollier/Maffucci)
- Cellularity: Hypocellular hyaline cartilage
- Chondrocytes: Small uniform cells in lacunae
- Nuclei: Single, regular, small nuclei
- Matrix: Abundant hyaline cartilage matrix
- Calcification: Dystrophic calcification common
- Growth pattern: Lobular architecture preserved
Secondary Chondrosarcoma (Transformed)
- Cellularity: Hypercellular (increased cell density)
- Chondrocytes: Enlarged cells, irregular distribution
- Nuclei: Enlarged hyperchromatic nuclei, binucleation
- Matrix: Myxoid degeneration areas
- Permeation: Infiltration into surrounding bone
- Atypia: Moderate to severe nuclear atypia
Histological Challenges
Distinguishing benign from malignant lesions histologically is extremely difficult in enchondromatosis patients. Key challenges:
- Enchondromas in Ollier/Maffucci may show higher cellularity than solitary enchondromas (still benign)
- Low-grade chondrosarcoma may have minimal atypia (subtle changes)
- Sampling error common - biopsy may miss malignant areas in heterogeneous tumors
Clinical and radiological correlation is ESSENTIAL. Pain, growth, cortical destruction, and soft tissue mass are more reliable indicators of malignancy than histology alone. Expert musculoskeletal pathologist review mandatory.
Classification
Types of Enchondromatosis
Classification of Enchondromatosis Syndromes
| Syndrome | Key Features | Extra-Skeletal Findings | Malignancy Risk |
|---|---|---|---|
| Ollier Disease | Multiple enchondromas, predominantly unilateral distribution, limb shortening | None | 25-30% lifetime risk of chondrosarcoma |
| Maffucci Syndrome | Multiple enchondromas + multiple soft tissue hemangiomas | Spindle cell hemangiomas (pathognomonic) | Higher risk (40-50%), plus risk of other malignancies |
| Metachondromatosis | Enchondromas + osteochondromas (exostoses) | None | Low |
| Genochondromatosis | Generalized enchondromatosis, autosomal dominant | None | Unknown |
Distribution Patterns
Ollier Disease Distribution:
- Typically unilateral or predominantly affects one side
- Commonly affects hands and feet
- Long bones of lower limb frequently involved
- May cause significant limb length discrepancy
Maffucci Syndrome Distribution:
- Similar enchondroma distribution to Ollier
- Plus spindle cell hemangiomas (soft tissue masses)
- Hemangiomas may be in soft tissues or viscera
- Higher overall malignancy risk
Exam Pearl
Exam Viva Point: "How do you differentiate Ollier disease from Maffucci syndrome?" Answer: Maffucci syndrome = enchondromas + soft tissue hemangiomas (spindle cell type). Both have IDH mutations as underlying cause. Maffucci has higher malignancy risk (40-50% vs 25-30%) and increased risk of non-skeletal malignancies (gliomas, ovarian tumors).
Classification is based on presence or absence of extra-skeletal features, particularly soft tissue hemangiomas.
Clinical Presentation
Typical Presentation Patterns
Early Childhood Presentation
- Limb deformity noticed by parents (leg length difference)
- Palpable masses in hands or feet (cartilage enlargement)
- Gait abnormality due to limb length discrepancy
- Incidental X-ray finding for minor trauma
- Angular deformity (varus/valgus) of long bones
Adolescent/Adult Presentation
- Pathological fracture through weakened bone
- Progressive deformity worsening with growth
- Pain in lesion (RED FLAG - malignant transformation)
- Palpable soft tissue mass (chondrosarcoma with soft tissue extension)
- Functional impairment from severe deformities
Skeletal Deformities
Common Deformities in Enchondromatosis
| Deformity Type | Mechanism | Location | Management |
|---|---|---|---|
| Limb length discrepancy | Asymmetric growth plate involvement | Lower limbs most common | Epiphysiodesis or lengthening |
| Angular deformity | Metaphyseal enchondromas disrupt growth | Tibia, femur, forearm | Corrective osteotomy when severe |
| Hand deformities | Multiple phalangeal enchondromas | Fingers shortened and widened | Curettage after fractures only |
| Pathological fracture | Cortical thinning from lesions | Any involved bone | Stabilize, then curettage after healing |
Red Flag Symptoms - Malignant Transformation
Signs of Malignant Transformation
Any of these symptoms in a known enchondromatosis patient requires URGENT MRI and biopsy consideration:
- New onset pain in previously asymptomatic lesion (MOST IMPORTANT)
- Progressive enlargement on serial X-rays
- Palpable soft tissue mass on examination
- Cortical breakthrough on X-ray or CT
- Rapid functional decline (new weakness, limited motion)
- Night pain or pain at rest
- Constitutional symptoms (rare - weight loss, fatigue)
Management: MRI of affected area, CT chest to rule out metastases, CT-guided biopsy with excisable trajectory, multidisciplinary tumor board discussion. Do NOT delay - early detection critical for limb salvage.
Physical Examination
Systematic Examination of Enchondromatosis Patient
- Limb lengths: Measure leg lengths (ASIS to medial malleolus)
- Angular deformities: Assess varus/valgus alignment of limbs
- Hand deformities: Note shortened digits, expanded phalanges
- Soft tissue masses: Look for hemangiomas (Maffucci) or soft tissue extension of tumors
- Gait: Observe for limp, Trendelenburg gait
- Bony masses: Palpate all visible/palpable lesions
- Tenderness: Any tender lesion is RED FLAG for malignancy
- Soft tissue masses: Palpate for extraosseous extension
- Hemangiomas: Compressible soft tissue masses (Maffucci)
- Temperature: Warm areas suggest active tumor growth
- Joint range of motion: Check all major joints
- Limb rotation: Assess for rotational deformities
- Functional assessment: Grip strength, walking distance
- Neurovascular exam: Check pulses, sensation in all limbs
- Skeletal diagram: Map all known lesions
- Photography: Document visible deformities and hemangiomas
- Measurements: Record limb lengths and joint angles
- Pain assessment: Document any painful lesions for urgent MRI
Investigations and Imaging
Baseline Skeletal Survey
At diagnosis, patients require complete skeletal survey to document all lesions and establish baseline for surveillance.
Initial Imaging Protocol
- All extremities: AP and lateral views
- Pelvis and femurs: AP views
- Spine: AP and lateral if symptomatic
- Hands and feet: PA views
- Document: number of lesions, size, cortical involvement, deformities
- Proximal long bones: Femur, humerus (high malignancy risk sites)
- Painful lesions: Any lesion with new pain
- Large lesions: Greater than 5cm or significant cortical thinning
- Assess: soft tissue extension, marrow involvement, cortical integrity
- Clinical photos: All visible deformities
- Limb length measurements: Scanogram or CT scanogram
- Angular measurements: Long-leg alignment films if needed
Radiographic Features of Enchondromas (Ollier/Maffucci)
Radiographic Characteristics
| Feature | Appearance | Location | Significance |
|---|---|---|---|
| Matrix calcification | Rings-and-arcs or stippled pattern | Within medullary cavity | Pathognomonic for cartilage tumor |
| Cortical thinning | Endosteal scalloping, expansion | Circumferential in severe cases | Pathological fracture risk |
| Growth plate involvement | Metaphyseal location, crosses physis | Long bones near joints | Causes growth disturbance and deformity |
| Distribution | Multiple lesions, unilateral predominance | Entire limb or hemibody | Diagnostic for Ollier disease |
MRI Assessment for Malignancy
MRI is the gold standard for detecting malignant transformation. Key features:
Benign Enchondroma on MRI
- T1 signal: Low to intermediate (cartilage)
- T2 signal: Very high (hyaline cartilage water content)
- Enhancement: Peripheral septal enhancement only
- Soft tissue: No extraosseous component
- Margins: Well-defined lobulated contour
- Size: Variable but stable on serial imaging
Chondrosarcoma on MRI (Transformed)
- T1 signal: Heterogeneous with low signal areas
- T2 signal: Heterogeneous (myxoid areas)
- Enhancement: Intense irregular enhancement
- Soft tissue: Soft tissue mass PRESENT
- Margins: Ill-defined, infiltrative pattern
- Size: Progressive enlargement on serial MRI
MRI Pearl - Soft Tissue Component
Presence of soft tissue mass on MRI is the SINGLE MOST RELIABLE indicator of malignant transformation in enchondromatosis patients. Benign enchondromas do NOT break through cortex and extend into soft tissue. If you see soft tissue component, assume chondrosarcoma until proven otherwise and proceed with biopsy and wide excision.
Imaging Gallery
Surveillance Imaging Protocol
Lifelong Surveillance Strategy
| Age/Stage | Clinical Exam | Imaging | Frequency |
|---|---|---|---|
| Childhood (under 18) | Annual full exam, measure limbs | Skeletal survey every 2-3 years | More frequent if growing deformities |
| Young adult (18-40) | Annual exam, document new symptoms | X-rays of symptomatic areas only | Annual clinical, imaging as needed |
| Older adult (over 40) | Annual exam with high suspicion | Low threshold for MRI if any symptoms | Annual, more aggressive imaging |
| Any age with symptoms | Urgent clinical evaluation | MRI of affected area, CT chest | Immediate workup for malignancy |
Biopsy Decision-Making
When to Biopsy in Enchondromatosis
Perform biopsy if:
- New pain in previously asymptomatic lesion
- Progressive enlargement on serial imaging
- Soft tissue mass on MRI
- Cortical breakthrough on CT
- Patient age over 40 with new symptoms in axial skeleton
Technique: CT-guided core needle biopsy with excisable trajectory (plan for wide excision through same approach if malignant).
Discuss at tumor board:
- Large lesion (over 5cm) in proximal long bone
- Moderate cortical destruction (over 2/3 thickness)
- Heterogeneous enhancement on MRI (equivocal)
- Patient anxiety about specific lesion
Balance risk of tumor seeding against diagnostic benefit.
Safe to observe:
- Small asymptomatic hand/foot lesions
- Stable size on serial imaging (2+ years)
- Classic benign MRI features if MRI performed
- Young patient with no concerning features
Serial imaging every 6-12 months safer than biopsy.
Biopsy Risks in Enchondromatosis
Specific considerations for biopsy in Ollier/Maffucci patients:
- Tumor seeding: Risk of seeding biopsy tract with malignant cells
- Sampling error: Heterogeneous tumors may show benign areas in biopsy but malignant areas elsewhere
- Histological overlap: Even expert pathologists struggle to distinguish benign from low-grade malignant
- Multiple lesions: Difficult to biopsy every concerning lesion
Recommendation: Reserve biopsy for lesions where clinical/imaging strongly suggests malignancy AND where result will change management (i.e., proceed with wide excision if confirmed chondrosarcoma).
Differential Diagnosis
Multiple Cartilage Lesion Syndromes
| Syndrome | Cartilage Lesions | Other Features | Malignancy Risk |
|---|---|---|---|
| Ollier disease | Multiple enchondromas, unilateral | Deformities, NO hemangiomas | 25-30% chondrosarcoma |
| Maffucci syndrome | Multiple enchondromas | Soft tissue hemangiomas present | Nearly 100% (chondrosarcoma + angiosarcoma) |
| Metachondromatosis | Enchondromas + osteochondromas | Autosomal dominant, PTPN11 mutation | Low malignancy risk |
| Multiple osteochondromas | Osteochondromas only (NO enchondromas) | Autosomal dominant, EXT1/EXT2 | 1-5% malignant transformation |
Key Differentiators
Ollier vs Maffucci: Look for soft tissue hemangiomas (visible, compressible masses). If present, it's Maffucci with nearly 100% malignancy risk. If absent, it's Ollier with 25-30% risk.
Enchondromas vs Osteochondromas: Enchondromas are INTRAMEDULLARY (inside bone) with rings-and-arcs calcification. Osteochondromas are SURFACE lesions (exostoses) with cartilage cap pointing away from joint. Metachondromatosis has BOTH types.
Ollier vs Metachondromatosis: Metachondromatosis is autosomal dominant (family history), has both enchondromas and osteochondromas, and has MUCH lower malignancy risk than Ollier.
Management Algorithm
Lifelong Surveillance Protocol
Goal: Early detection of malignant transformation to enable limb-salvage surgery and improve survival.
Annual Surveillance Visit
- Pain assessment: Any new pain in any lesion? Character, duration, severity
- Functional change: New weakness, limited motion, gait change?
- Visible changes: New masses, enlarging lesions?
- Constitutional symptoms: Weight loss, fatigue, night sweats?
- Fractures: Any new pathological fractures since last visit?
- Inspect all limbs: Look for new deformities, masses, asymmetry
- Palpate all accessible lesions: Check for tenderness (RED FLAG)
- Measure limb lengths: Document progression of discrepancy
- Assess deformities: Angular deformities, rotational abnormalities
- Check hemangiomas: In Maffucci, assess for changes (angiosarcoma)
- X-rays: Any symptomatic areas or areas of concern on exam
- MRI: LOW threshold - any painful lesion or palpable change
- Comparison: Compare to previous imaging for subtle growth
- CT chest: If chondrosarcoma suspected (staging)
- Warning signs: Teach patient red flags (pain, swelling, growth)
- Self-examination: How to palpate accessible lesions monthly
- Urgent reporting: Instruct to report new symptoms immediately
- Prognosis: Honest discussion of malignancy risk
Surveillance Saves Lives
Early detection of malignant transformation is CRITICAL. Studies show that chondrosarcomas detected early (small size, no metastases) have 90% 5-year survival with wide excision. Late detection (large size, metastatic) has under 30% survival. Aggressive surveillance and low threshold for MRI/biopsy are essential.
Surveillance Imaging Schedule
Recommended Imaging Frequency
| Patient Age | Baseline Imaging | Follow-up Imaging | Indications |
|---|---|---|---|
| Under 18 years | Skeletal survey at diagnosis | Repeat skeletal survey every 2-3 years | Monitor growth, detect new lesions |
| 18-40 years | Update skeletal survey if not recent | X-rays of symptomatic areas annually | Peak age for malignant transformation |
| Over 40 years | Skeletal survey if new symptoms | MRI any new pain or growth immediately | Very high suspicion for malignancy |
This completes the surveillance section.
Surgical Technique
Surgical Indications
Indications for Surgery
- Pathological fracture (after healing for curettage)
- Symptomatic lesions causing pain or dysfunction
- Angular deformity affecting function
- Limb length discrepancy greater than 2cm
- Suspected malignant transformation
- Cosmetically unacceptable deformity
Contraindications/Caution
- Asymptomatic lesions (surveillance preferred)
- Active malignancy without staging workup
- Poor soft tissue envelope
- Multiple procedures planned (stage appropriately)
- Growing skeleton (consider timing)
Curettage and Bone Grafting
Standard Curettage Technique
| Step | Technique | Key Points |
|---|---|---|
| Exposure | Adequate cortical window for complete visualization | Window 2/3 length of lesion, hinge on one side for closure |
| Curettage | Systematic removal of all cartilaginous tissue | Start centrally, work to periphery; curettes of various sizes |
| Extended curettage | High-speed burr to remove residual tissue | Extends margins 1-2mm into normal bone |
| Adjuvant (if needed) | Phenol, hydrogen peroxide, or cryotherapy | For aggressive lesions or recurrences; protect soft tissues |
| Bone grafting | Fill defect with autograft, allograft, or substitute | Autograft preferred for large defects; calcium phosphate for small lesions |
| Stabilization | Internal fixation if fracture risk high | Prophylactic plating for large defects in weight-bearing bones |
Hand Enchondroma Surgery
Phalangeal/Metacarpal Technique
- Incision: Dorsal longitudinal or mid-lateral
- Window: Rectangular cortical window (preserve for closure)
- Curettage: Complete removal with small curettes
- Grafting: Often not required for small defects (fibrous healing)
- Fixation: K-wire only if unstable fracture
- Early motion: Begin at 2-4 weeks
Special Considerations
- Multiple lesions: Stage surgeries 6-8 weeks apart
- Pathological fracture: Allow healing (4-6 weeks) before curettage
- Digital nerve: Protect during exposure
- Tendon adherence: Meticulous soft tissue handling
- No adjuvant: Rarely needed in hand
Deformity Correction
Angular Deformity Management
| Deformity Type | Procedure | Timing Considerations |
|---|---|---|
| Mild varus/valgus (less than 15°) | Guided growth with 8-plate if growing | Remove at skeletal maturity or correction |
| Moderate deformity (15-30°) | Acute corrective osteotomy | Wait until near skeletal maturity if possible |
| Severe deformity (greater than 30°) | Gradual correction with external fixator | Taylor Spatial Frame or Ilizarov |
| Combined angular + length | Osteotomy with lengthening | Address both simultaneously with circular fixator |
Limb Length Discrepancy Management
Epiphysiodesis
- Indication: Predicted discrepancy 2-5cm at maturity
- Timing: Based on growth remaining (Paley multiplier)
- Technique: Percutaneous drill or 8-plate
- Advantage: Simple, outpatient procedure
- Limitation: Cannot correct existing discrepancy
Limb Lengthening
- Indication: Discrepancy greater than 5cm or skeletal maturity
- Rate: 1mm/day (0.25mm x 4 increments)
- External fixator: Ilizarov or TSF
- Internal lengthening nail: PRECICE, FITBONE
- Consolidation index: ~36 days/cm
Malignant Transformation
Any lesion with pain at rest, rapid growth, cortical destruction, or soft tissue mass requires biopsy BEFORE definitive surgery. Suspected chondrosarcoma needs wide resection, NOT curettage.
Complications and Outcomes
Disease-Related Complications
Major Complications in Enchondromatosis
| Complication | Incidence | Impact | Management |
|---|---|---|---|
| Malignant transformation | 25-30% Ollier, 100% Maffucci | Life-threatening, requires wide excision | Surveillance, early detection, wide resection |
| Pathological fracture | 30-40% of patients | Pain, disability, may require surgery | Immobilize, heal, then curettage and graft |
| Limb length discrepancy | 60-70% with lower limb involvement | Gait abnormality, back pain, cosmetic | Epiphysiodesis or lengthening |
| Angular deformity | 40-50% with metaphyseal lesions | Joint malalignment, arthritis risk | Guided growth or corrective osteotomy |
| Functional impairment | Variable (20-80%) | Limited activities, reduced quality of life | Physiotherapy, adaptive equipment, surgery |
Treatment-Related Complications
Curettage Complications
- Recurrence: 5-15% after curettage (incomplete removal)
- Re-fracture: 5-10% if large defect not adequately grafted
- Infection: 2-3% (standard surgical site infection risk)
- Stiffness: 10-20% in hand surgery without early mobilization
Reconstruction Complications
- Allograft nonunion: 10-20% at host-graft junction
- Allograft fracture: 5-10% years after surgery
- Prosthetic loosening: 5-10% at 10 years for endoprosthesis
- Infection: 5-15% for major reconstructions
- Limb length discrepancy: May persist after reconstruction
Long-Term Outcomes
Quality of Life Considerations
Enchondromatosis patients face lifelong challenges:
Physical: Multiple surgeries (fractures, deformities, malignancy), chronic pain, functional limitations, cosmetic concerns.
Psychological: Anxiety about cancer risk, depression from chronic illness, body image issues, social isolation.
Social: Missed school/work for appointments and surgeries, financial burden of lifelong care, relationship challenges.
Management: Multidisciplinary approach including orthopedic surgery, oncology, physiotherapy, psychology, genetic counseling, and social work. Patient support groups valuable.
Postoperative Care
Post-Curettage Care
Recovery Protocol After Curettage
| Phase | Duration | Key Activities | Precautions |
|---|---|---|---|
| Immediate | 0-2 weeks | Wound care, pain control, elevation | Restrict weight-bearing if lower limb |
| Early mobilization | 2-6 weeks | Gentle ROM exercises, edema control | Avoid heavy lifting; protect surgical site |
| Progressive loading | 6-12 weeks | Gradual return to activity, physiotherapy | Serial X-rays to confirm graft incorporation |
| Full recovery | 12+ weeks | Return to full activities, sport | Ongoing surveillance for recurrence |
Hand Surgery Rehabilitation
Early Phase (0-4 weeks)
- Week 1: Bulky dressing, elevation, finger ROM out of splint
- Week 2: Remove bulky dressing, begin active exercises
- Week 3-4: Gentle grip strengthening, scar massage
- Splinting: Volar resting splint at night only if needed
- Edema control: Coban wrap, elevation, retrograde massage
Late Phase (4-12 weeks)
- Week 4-6: Progressive strengthening, putty exercises
- Week 6-8: Return to light work activities
- Week 8-12: Full return to sport/manual work
- Follow-up: Radiographs at 6 weeks, 3 months, 6 months
- Recurrence watch: Any pain, swelling, or new deformity
Weight-Bearing Progression
Post-Curettage Weight-Bearing Protocol
| Site | Initial | Progression | Full WB |
|---|---|---|---|
| Upper extremity | Sling comfort only | Immediate ROM | 2-4 weeks |
| Femur/Tibia (small lesion) | Touch-down WB | Progressive at 4-6 weeks | 6-8 weeks |
| Femur/Tibia (large lesion/plate) | Non-weight bearing | TDWB at 6 weeks | 8-12 weeks |
| Foot (metatarsal/phalanx) | Heel walking/cast boot | Progressive at 4 weeks | 6-8 weeks |
Surveillance Protocol
Imaging Schedule
- Post-op X-ray: Immediate (baseline)
- 6 weeks: Confirm healing, graft incorporation
- 3 months: Assess for recurrence
- 6 months: Check remodeling
- Annually: Lifelong (malignancy surveillance)
- MRI: If pain or suspicious changes
Clinical Assessment
- Wound healing: Complete by 2 weeks
- Pain: Should improve progressively
- Function: Full ROM by 6-8 weeks (hand)
- Red flags: Night pain, new mass, rapid growth
- Other lesions: Monitor all known enchondromas
Patient Education
Patients and families must understand that enchondromatosis requires LIFELONG follow-up even after successful surgery. New lesions can develop, existing lesions can recur, and malignant transformation remains a risk throughout life.
Outcomes
Overall Prognosis
Surgical Outcomes by Procedure
Outcomes After Common Procedures
| Procedure | Success Rate | Recurrence | Key Outcomes |
|---|---|---|---|
| Hand enchondroma curettage | 95%+ | 5-10% | Excellent function, minimal complications |
| Long bone curettage | 85-90% | 10-15% | Good results; may need repeat surgery |
| Corrective osteotomy | 80-90% | N/A | Deformity correction achieved; may lose correction with growth |
| Epiphysiodesis (LLD) | 90%+ | N/A | Predictable if timed correctly |
| Limb lengthening | 70-85% | N/A | Good outcomes but high complication rate (30-50%) |
| Wide resection (chondrosarcoma) | Variable | 10-20% | Depends on grade, margins, and metastatic status |
Functional Outcomes
Upper Limb Function
- Hand: Generally excellent after isolated curettage
- DASH scores: Near normal with single lesions
- Multiple lesions: May have residual weakness
- Work capacity: Usually maintained
- Fine motor: Preserved unless multiple digit involvement
Lower Limb Function
- Ambulation: Most achieve community ambulation
- Leg length discrepancy: Managed with shoe raise or surgery
- Hip/Knee function: Depends on juxta-articular involvement
- Sport: Often modified activities recommended
- Walking aids: Required in 10-20% with severe disease
Quality of Life Factors
Physical Aspects
- Multiple surgeries (average 3-5 over lifetime)
- Chronic pain in 20-40% of patients
- Functional limitations in severe cases
- Cosmetic concerns (limb asymmetry, scars)
- Fatigue from chronic disease burden
Psychosocial Aspects
- Cancer anxiety (lifelong malignancy risk)
- Body image issues (especially adolescents)
- Educational/vocational impact
- Healthcare burden (frequent appointments)
- Financial impact of lifelong care
Evidence Base and Key Studies
Discovery of IDH Mutations in Enchondromatosis
- Identified somatic IDH1 and IDH2 mutations in 87% of enchondromas from Ollier disease and Maffucci syndrome
- Mutations were NOT in germline (blood DNA) - explains sporadic occurrence and low recurrence risk
- Same mutations found in both benign enchondromas and secondary chondrosarcomas
- IDH mutations cause accumulation of 2-hydroxyglutarate which disrupts cartilage differentiation
- Discovery explains mosaic distribution and provides potential therapeutic target
Malignant Transformation Risk in Ollier Disease
- Systematic review of 163 Ollier disease patients with long-term follow-up
- Chondrosarcoma developed in 25-30% of patients by age 40 years
- Mean age at malignant transformation was 37 years (range 13-72)
- Axial skeleton (pelvis, femur, humerus) had highest risk for transformation
- Pain was the most reliable clinical indicator of malignant transformation (90% sensitivity)
Maffucci Syndrome - Nearly Universal Malignancy
- Review of all reported Maffucci syndrome cases in English literature (1881-1973)
- 37% developed chondrosarcoma from enchondromas
- 23% developed other malignancies including angiosarcoma, brain tumors, ovarian tumors
- Combined lifetime malignancy risk approached 100% by age 40
- Prognosis extremely poor with multifocal disease common
Surveillance and Early Detection in Enchondromatosis
- Prospective surveillance protocol for 42 enchondromatosis patients over 10 years
- Annual clinical examination with MRI of any painful lesions detected 8 chondrosarcomas
- All detected chondrosarcomas were Grade 1 or 2, amenable to limb-salvage surgery
- 5-year survival for surveillance-detected chondrosarcoma was 90%
- Patients without regular surveillance presented with larger, higher-grade tumors (5-year survival 40%)
Exam Viva Scenarios
Practice these scenarios to excel in your viva examination
Scenario 1: New Diagnosis of Ollier Disease
"A 7-year-old girl presents with limb length discrepancy (left leg 3cm shorter than right). X-rays show multiple enchondromas in the left femur, tibia, and foot. Right leg is normal. Parents ask about diagnosis and prognosis. What is your diagnosis and how do you counsel the family?"
Scenario 2: Suspected Malignant Transformation
"A 32-year-old woman with known Ollier disease presents with 3 months of progressive right groin pain. She has multiple enchondromas in the right femur documented since childhood. X-ray shows 8cm lesion in proximal femur with cortical thinning. MRI shows heterogeneous T2 signal with small soft tissue component. How do you proceed?"
Scenario 3: Maffucci Syndrome with Dual Malignancy Risk
"A 28-year-old man with Maffucci syndrome (multiple enchondromas plus hemangiomas) presents for annual surveillance. He is asymptomatic. Physical exam reveals stable enchondromas in hands and feet, but one hemangioma on his left calf has doubled in size over 6 months and feels firm. How do you manage this patient?"
MCQ Practice Points
Exam Pearl
Q: What is the difference between Ollier disease and Maffucci syndrome?
A: Both are non-hereditary enchondromatosis syndromes. Ollier disease: Multiple enchondromas with asymmetric distribution, typically unilateral predominance; No associated soft tissue lesions. Maffucci syndrome: Multiple enchondromas PLUS soft tissue hemangiomas (venous malformations, phleboliths on X-ray). Maffucci has higher malignancy risk (40-50% vs 25-30% for Ollier). Both present in childhood with limb deformity, shortening, and pathological fractures.
Exam Pearl
Q: What is the malignancy risk in Ollier disease and how do you monitor for malignant transformation?
A: Lifetime chondrosarcoma risk is 25-30% (much higher than solitary enchondroma which is less than 1%). Warning signs for transformation: New or increasing pain (especially at rest); Rapid growth on serial imaging; Size greater than 5cm; Soft tissue mass on MRI; Cortical destruction. Surveillance: Clinical review annually; Imaging of symptomatic lesions; Low threshold for biopsy/resection of suspicious lesions. Transformation usually occurs in adulthood (3rd-4th decade).
Exam Pearl
Q: What are the clinical features and natural history of Ollier disease?
A: Presents in early childhood (first decade) with limb shortening, angular deformity, and palpable bony swelling. Typically asymmetric distribution, often with unilateral predominance. Common sites: hands, feet, long bones. Complications: Pathological fractures (heal normally); Progressive deformity; Limb length discrepancy. Natural history: Lesions may stabilize after skeletal maturity but remain at risk for malignant transformation throughout life.
Exam Pearl
Q: What is the typical imaging appearance of enchondromas in Ollier disease?
A: Multiple well-defined lytic lesions with chondroid matrix (rings and arcs calcification). Distribution: Metaphyseal, extending toward physis in immature skeleton. May cause expansion and cortical thinning without destruction. Characteristic: Streaky or columnar appearance extending from physis (reflecting origin from growth plate cartilage). MRI: High T2 signal (cartilage), lobular architecture. CT best for matrix calcification and cortical integrity assessment.
Exam Pearl
Q: How is limb deformity and length discrepancy managed in Ollier disease?
A: Conservative: Shoe lifts for mild LLD (less than 2cm). Surgical options: (1) Epiphysiodesis of contralateral limb for moderate LLD; (2) Lengthening procedures (distraction osteogenesis) for severe LLD; (3) Corrective osteotomy for angular deformity; (4) Curettage and grafting for symptomatic lesions. Timing: Defer elective surgery until skeletal maturity if possible due to high recurrence risk in immature skeleton. Amputation rarely needed but considered for severe, recurrent deformity.
Australian Context
Specialist Referral Centers
- Peter MacCallum Cancer Centre (VIC) - Leading sarcoma center, multidisciplinary tumor board
- Chris O'Brien Lifehouse (NSW) - Limb salvage surgery and oncology
- Royal Adelaide Hospital (SA) - Bone tumor unit with expert MSK pathology
- Princess Margaret Hospital (WA) - Pediatric orthopedic oncology
- All suspected chondrosarcomas should be referred to tertiary sarcoma centers
Genetic and Support Services
- Genetic counseling: Available at all major hospitals for family counseling
- Rare Disease Support: Genetic Alliance Australia provides resources
- Limb Difference Support: Enable Australia for adaptive equipment
- Psychological support: Cancer Council provides counseling services
Australian Epidemiology and Management
Enchondromatosis is rare in Australia with estimated incidence of 1-2 cases per million population annually. Most cases are diagnosed at major pediatric hospitals (Royal Children's Hospital Melbourne, Sydney Children's Hospital, Queensland Children's Hospital). Lifelong surveillance is coordinated through tertiary sarcoma centers with multidisciplinary tumor boards. Access to MRI surveillance may be limited by Medicare restrictions for asymptomatic lesions - establishing care at a tertiary center helps navigate funding for appropriate imaging.
ENCHONDROMATOSIS - OLLIER DISEASE AND MAFFUCCI SYNDROME
High-Yield Exam Summary
Key Definitions
- •**Ollier disease**: Multiple unilateral enchondromas, sporadic, 25-30% malignancy risk
- •**Maffucci syndrome**: Enchondromas PLUS hemangiomas, nearly 100% malignancy risk
- •**IDH1/IDH2 somatic mutations**: Found in 87% of lesions, NOT inherited
- •**Chondrosarcoma**: Malignant cartilage tumor from enchondroma transformation
Clinical Presentation
- •Childhood: limb deformity, limb length discrepancy, palpable masses
- •Adolescence: pathological fractures, progressive deformities
- •Adulthood: pain in lesion (RED FLAG for malignancy), soft tissue mass
- •Maffucci: visible hemangiomas (soft compressible masses)
Diagnosis
- •**Skeletal survey**: Document all lesions at baseline (X-rays all limbs)
- •**MRI**: For large proximal lesions and any symptomatic lesion
- •**X-ray features**: Multiple enchondromas, rings-and-arcs calcification, unilateral
- •**Genetic testing**: IDH1/IDH2 mutation testing available but not routine
Red Flags for Malignancy
- •**Pain without trauma** - most important clinical sign (90% sensitivity)
- •Progressive enlargement on serial imaging
- •Soft tissue mass on MRI (highly specific for chondrosarcoma)
- •Cortical breakthrough on CT, lesion size over 5cm
Surveillance Protocol
- •**Annual clinical exam**: Check for pain, masses, deformities
- •**Skeletal survey**: Repeat every 2-3 years in childhood
- •**Low threshold for MRI**: Any painful lesion gets MRI immediately
- •**Biopsy if suspicious**: CT-guided with excisable trajectory
Management of Deformities
- •**Limb length discrepancy**: Epiphysiodesis (2-5cm) or lengthening (over 5cm)
- •**Angular deformity**: Guided growth or corrective osteotomy
- •**Pathological fracture**: Immobilize, heal, delayed curettage and graft
- •**MRI before elective surgery**: Rule out malignancy before deformity correction
Malignancy Treatment
- •**Chondrosarcoma**: Wide excision with 5-10mm margins (curettage inadequate)
- •**Reconstruction**: Allograft, endoprosthesis, or allograft-prosthetic composite
- •**Angiosarcoma (Maffucci)**: Wide excision, often requires amputation
- •**No chemo/radiation**: Chondrosarcoma does NOT respond; surgery only curative
Prognosis
- •**Ollier malignancy risk**: 25-30% develop chondrosarcoma by age 40
- •**Maffucci malignancy risk**: Nearly 100% lifetime (chondrosarcoma + angiosarcoma)
- •**Chondrosarcoma survival**: 90% 5-year for Grade 1 with wide excision
- •**Surveillance benefit**: Early detection enables limb salvage and better survival