Enchondromatosis, also known as Ollier disease, is a non-hereditary, sporadic, skeletal disorder characterised by multiple enchondromas that are principally located in the metaphyseal regions.
Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In the original description of Ollier disease, the enchondromas were predominantly confined to one side and limited to the limbs. As such, some authors prefer to use the term Ollier disease in cases where this distribution is present and use enchondromatosis or multiple enchondromatosis for cases where the distribution is more symmetric 5.
Ollier disease is seen in both sexes without gender predilection and usually becomes apparent by early childhood 3-4. The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations.
Clinical presentation is usually with deformity and pain (present only during periods of rapid growth) 3-4. If pain occurs when the child is older, this should raise the concern of malignant transformation or pathological fracture. If involvement of the lower limbs is significant, leg length discrepancy may occur.
The aetiology of enchondromatosis has been associated with post-zygote state mutations during development. More interestingly, it has been reported that the PTHrP receptor has been implicated as a gene responsible for cases of enchondromatosis in patients with family history of mild skeletal dysplasia in their male parents.
Once the individual stops growing then in general, so do the enchondromas. If growth occurs then, this too is a sign of potential malignant transformation 4.
There is an increased risk of chondrosarcoma occurring later in life. The risk has been reported to be up to 25-30% at 40 years 1-2. Additionally, there is an increased risk of developing gliomas, pancreatic and juvenile granulosa cell tumours of the ovary 7, 8.
They can occur anywhere but most frequently involve the short tubular bones of the hands and feet. Most patients have bilateral involvement but often significant asymmetry 4.
Radiographs show multiple enchondromas. Larger lesions can show cartilage calcification in a typical rings and arcs pattern.
Vertical streaks of lucency also present in the metaphysis of long bones, extending to the epiphysis, which represents columns of cartilage.
For further discussion of appearances, please refer to the article on enchondromas.
Treatment and prognosis
The extent of disease is highly variable and thus so is the degree of impairment. If only a few bones are involved, then little if any handicap is present, although the affected bones do have a higher rate of fracture.
If there is extensive involvement, it might cause growth impairment, deformity (such as leg length discrepancy or Madelung deformity of the forearm), and functional impairment and these may require corrective surgery.
History and etymology
It is named after Louis Leopold Ollier, French surgeon.
Imaging differential considerations include:
- 1. Gabos PG, Bowen JR. Epiphyseal-metaphyseal enchondromatosis. A new clinical entity. J Bone Joint Surg Am. 1998;80 (6): 782-92. J Bone Joint Surg Am (full text) - Pubmed citation
- 2. Zwenneke flach H, Ginai AZ, Wolter oosterhuis J. Best cases from the AFIP. Maffucci syndrome: radiologic and pathologic findings. Armed Forces Institutes of Pathology. Radiographics. 21 (5): 1311-6. Radiographics (full text) - Pubmed citation
- 3. Gilbert P. A-Z of syndromes and inherited disorders, a manual for health, social, and education workers. Nelson Thornes. (1999) ISBN:0748745297. Read it at Google Books - Find it at Amazon
- 4. Burgener FA, Kormano M, Pudas T. Bone and Joint Disorders. Thieme Medical Pub. (2005) ISBN:1588904458. Read it at Google Books - Find it at Amazon
- 5. Greenspan A, Jundt G, Remagen W. Differential diagnosis in orthopaedic oncology. Lippincott Williams & Wilkins. (2006) ISBN:0781779308. Read it at Google Books - Find it at Amazon
- 6. Tanaka Y, Sasaki Y, Nishihira H et-al. Ovarian juvenile granulosa cell tumor associated with Maffucci's syndrome. Am. J. Clin. Pathol. 1992;97 (4): 523-7. Pubmed citation
- 7. Grant, Griffin. Grainger & Allison's Diagnostic Radiology Essentials. Churchill Livingstone. ISBN:B00CC6IA3Y. Read it at Google Books - Find it at Amazon
- 8. Rietveld L, Nieboer TE, Kluivers KB et-al. First case of juvenile granulosa cell tumor in an adult with Ollier disease. Int. J. Gynecol. Pathol. 2009;28 (5): 464-7. doi:10.1097/PGP.0b013e3181a05af4 - Pubmed citation
The differential diagnosis for bone tumours is dependent on the age of the patient, with a very different set of differentials for the paediatric patient.
- bone-forming tumours
- cartilage-forming tumours
- chondromyxoid fibroma
- fibrous bone lesions
- bone marrow tumours
- other bone tumours or tumour-like lesions
- aneurysmal bone cyst
- benign fibrous histiocytoma
- giant cell tumour of bone
- Gorham massive osteolysis
- haemophilic pseudotumour
- intradiploic epidermoid cyst
- intraosseous lipoma
- musculoskeletal angiosarcoma
- musculoskeletal haemangiopericytoma
- primary intraosseous haemangioma
- simple bone cyst
- impending fracture risk