Ollier Disease
Synonyms: Hereditary multiple exostoses, multiple enchondromatosis, HME
SYSTEMIC GENETIC Syndrome
Quick Facts
Behaviour
Not set
Category
Syndrome
Synonyms
- Hereditary multiple exostoses
- multiple enchondromatosis
- HME
Category
Syndrome
Gender
M = F
Epidemiology
- Autosomal dominant disorder of enchondroma development
- Incidence 1 in 10,000
- PTPN11, ARAF, and KRAS mutations possible
- Multiple enchondromas throughout skeleton
- Significant malignancy risk (up to 10-40% to chondrosarcoma)
Clinical Features
- Multiple bony lumps (enchondromas)
- Limb length discrepancies
- Limb deformities
- Restricted joint motion
- Pain if nerve/vessel compression
Location
- Long bones: metaphyseal regions
- Femur, tibia, humerus most common
- Multiple bilateral lesions typical
Imaging
- Full-body skeletal survey: assess all lesions
- MRI: monitor lesion characteristics and Cartilage caps
- Annual imaging to detect Malignant transformation
Pathology
- Multiple Benign enchondromas
- Histology if transformation suspected
- Monitor for atypia and increased cellularity
Genetics
- PTPN11, ARAF, KRAS, or other mutations (non-APC)
- Distinct from HME with EXT1/2 mutations
- Gene testing not routinely required
Treatment
- Observation of asymptomatic lesions
- Surgical excision if symptomatic or concern for malignancy
- Enhanced surveillance for Malignant transformation
Prognosis
- 10-40% risk chondrosarcoma transformation
- Lifetime surveillance essential
- Malignancy typically occurs age 20-50 years
Key Points
- SYSTEMIC GENETIC Syndrome
- Multiple enchondromas throughout skeleton
- High malignancy risk requires close surveillance
- Distinguished from hereditary multiple exostoses (different genes)
Workup - Blood Tests
No specific tests
Workup - Local Imaging
- Full-body skeletal survey: baseline
- Annual MRI of affected areas: monitor for transformation
- CT if concern for malignancy
Workup - Biopsy
Biopsy if concern for chondrosarcoma (increased cellularity, atypia)
Workup - Staging
- Baseline full-body imaging
- Establish baseline lesion characteristics
Workup - Other
- Genetics consultation
- Orthopedic surveillance protocol
- Patient education on malignancy risk
Follow-up Summary
- 1
Annual full-body skeletal imaging (radiograph or CT)
- 2
MRI of lesions showing growth or concerning features
- 3
Assess for Malignant transformation
pain, rapid growth, aggressive imaging features
- 4
Surveillance for other cancers (possible association)
- 5
Genetic counselling for family
Medical disclaimer
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