General Information
Enchondromatosis is enchondral ossification or cartilage dysplasia.
Occurs in two clinical disorders:
- Ollier’s Disease
- rare skeletal disorder
- Multifocal intramedullary proliferation of dysplastic cartilage
- Present in one bone or multiple bones with severe deformity
- Maffucci’s Syndrome
- Multifocal skeletal cartilage lesions with extraskeletal hemangiomas
- Developmental disorder that shows no hereditary features
Clinical Presentation
Signs/Symptoms:
- Slow, progressive swelling
- angular deformity of extremity
- length discrepancy (affected bones grow slower)
Prevalence:
- no clear sex predilection
Age:
- Symptoms occur during childhood between first and second decades
Patients that develop Ollier’s early have more severe form of disease
Sites:
- Appendicular skeleton or trunk bones
- Most frequently affects one extremity
- Tubular hand bones, feet, femur, humerus, forearm
- Bilateral symmetry may be present
Radiographic Presentation
- Lesions are metaphyseal and diaphyseal and multifocal
- Lesions show calcifications typical of cartilage matrix
- Lesions form elongated grooves along the long axis of the bone
- Severe disease may produce dumbbell appearance of long bone
Gross Pathology
- Affected area expanded while bone shortens
- Cartilage masses found on longitudinal extensions of metaphyseal regions
- Rows of parallel cartilage masses from 1 to several centimeters in size
- Eccentric subperiosteal hyaline cartilage nodules
Microscopic Pathology
- More cellular and less calcified than solitary enchondromas
- Cartilage cells are larger
- Open chromatin structure
- Double nucleated cells
- Nuclear atypia and ECM immaturity
Biological Behavior
- Cartilage has the ability for slow, continuous growth
- Usually progression of lesions has curbed at puberty
- Rarely grow into adult ages
Treatment & Prognosis
- No specific treatment available
- Patients require lifetime observation
- Corrective surgery for deformed limbs and length difference
- possible secondary sarcomatous change
Other important information
- Differential diagnosis of enchondromatosis and low-grade chondrosarcoma is very difficult
