Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterized by multiple enchondromas 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.
In distinction from solitary lesions, enchondromas of enchondromatosis are more likely to be hypercellular in nature, yet are still considered benign in the absence of other aggressive findings 10.
The etiology of enchondromatosis has been associated with post-zygote state mutations during development. More interestingly, it has been reported that the PTHrP (parathyroid hormone-related protein) receptor has been implicated as a gene responsible for cases of enchondromatosis in patients with a 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 raises the possibility of 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 tumors of the ovary 7,8.
An association with primary CNS tumors has also been reported 11.
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 Xavier Édouard Léopold Ollier (1830-1900), a French orthopedic surgeon 9.
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
- 9. Ollier LX.E.L. Dyschondroplasie. Lyon médical. (1898). 88: 484-492.
- 10. Reith JD. Chapter 40 - Bone and Joints. In: Goldblum JR, Lamps LW, McKenney J, Myers JL. Rosai and Ackerman's Surgical Pathology (2017). p1740-1809. ISBN: 9780323263399
- 11. Hori K, Matsumine A, Niimi R, Maeda M, Uchida K, Nakamura T, Sudo A. Diffuse gliomas in an adolescent with multiple enchondromatosis (Ollier's disease). (2010) Oncology letters. 1 (4): 595-597. doi:10.3892/ol_00000105 - Pubmed
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- describing a bone lesion