dr james c wittig, orthopedic oncologist, new york, new jersey
About Dr. Wittig
Enchondromatosis

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
Copyright 2014 by Tumorsurgery.org
   
     
   
    
 
 
   Website Translation Widget

    Google+