Synonyms: multiple endochondromatosis, dyschondroplasia, endochondromatosis
Enchondromas are common intraosseous benign cartilaginous tumours, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis, also known as Ollier's disease (World Health Organization (WHO) terminology). When it is associated with haemangioma it is called Maffucci's syndrome. Disruption of musculoskeletal growth, development and function is the major cause for concern. There is also a risk of malignant change to osteosarcoma, chondrosarcoma or other bone tumours.
- Ollier's disease (and Maffucci's syndrome) are usually non-familial disorders. Both disorders thus appear to occur spontaneously and are not inherited.
- Although an identical heterozygous mutation in the PTHR1 gene has been identified, other mutations in this gene were not identified in additional patients with this disorder. These studies suggest that the cause of Ollier's disease is heterogeneous and raise the possibility that two (or more) genetic mutations are required to develop the disease. The development of enchondromas could thus be caused by a germ line mutation associated with a somatic mosaic mutation.
- Additional mutational events may underlie progression from enchondromas to tumours.
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- Ollier's disease is very rare. The estimated prevalence of Ollier's disease is 1/100,000.
- Maffucci's syndrome is even rarer.
- Solitary endochondromas are most commonly discovered between 20 and 40 years of age but Ollier's disease tends to present before the age of 10 years.
- Boys are affected twice as often as girls.
There are 6 types of enchondromatosis but 3 are more common.
- In Ollier's disease there are multiple enchondromas that are mostly unilateral or unevenly distributed throughout the metaphases of the long bones, sparing the cranium and spine.
- In Maffucci's syndrome the enchondromas occur with multiple cutaneous haemangiomas that appear as soft tissue calcifications or phleboliths on X-ray.
- If there is symmetrical involvement throughout the body, including the cranium, hands and feet, it is known as generalised enchondromatosis.
The lesions of Ollier's disease tend to be bilateral but to predominate on one side. Enchondromas usually occur in the short tubular bones of the hands and feet as well as long bones of upper and lower extremities. Palpable masses develop that may cause angular deformity and asymmetrical growth. The masses increase in size as the child grows along with asymmetrical shortening of a limb and either genu varus or genu valgus deformities. Varus deformity is very common.
The differential diagnosis may include:
- Hereditary multiple endochondromatosis (HME). HME is an autosomal dominant disorder characterised by multiple bone tumours capped by cartilage, that occur mostly in the metaphyses of long bones.
- Other rare forms of chondromatosis (which include metachondromatosis, spondyloenchondroplasia and genochondromatosis types I and II).
- Polyostotic fibrous dysplasia.
- Diaphyseal aclasis.
- Kaposi's sarcoma.
- Klippel-Trénaunay-Weber syndrome.
- The basic investigation is X-ray. Most cases have diaphyseal or metaphyseal lesions which do not cross the growth plate until after it has closed. Sometimes enchondromatosis will affect the metaphyseal and epiphyseal regions. When enchondromas cross the growth plate they cause severe limb length deformities and angular deformities.
- CT or MRI scanning may be required, as may bone scans. They are indicated for the evaluation and surveillance of lesions that become symptomatic (pain, and increase in size).
- Biopsy of suspicious lesions may be required.
The most common difficulties experienced with Ollier's disease concern mobility and hand function. These difficulties are managed with physiotherapy and orthotics.
Serial surgery may be required for the distortion of joints and when limbs are of unequal lengths.
As well as the problem of asymmetrical growth there can be pathological fracture and malignant change.
In Ollier's disease very variable rates of malignant change have been reported. In Maffucci's syndrome there is a greater risk of malignant change. A study from the Mayo Clinic reviewed 55 cases between 1907 and 1985. This study from a specialist centre gives results which are likely to be misleading for the majority of patients.
- The prognosis for Ollier's disease is difficult to assess as there is a paucity of peer-reviewed research and much of it is contradictory.
- As is generally the case, forms with an early onset appear more severe.
- The reported incidence of malignant transformation is variable and estimated to occur in 5-50%.
Despite acceptance that Ollier's disease carries a risk of malignant change there is little in the literature to quantify the risk and no agreed protocol for screening.
Louis Xavier Édouard Léopold Ollier was a French surgeon who was born in 1830 and died in 1900. He was an intern of Lyon Hospital in 1851, graduated in medicine with distinction in 1856 and, in 1857, obtained his doctorate at Paris with a dissertation based on histological studies of 400 malignant neoplasms. His most notable work was in bone and joint surgery. In 1877 a new medical faculty was established in Lyon and he was appointed professor of clinical surgery.
Angelo Maffucci was an Italian pathologist who was born in 1847 and died in 1903. He graduated in Naples in 1872. In 1882 he became head of general pathology at Messina University and the following year he received the chair of anatomical pathology at Catania. In 1884 he was appointed to the chair of pathological anatomy in Pisa, where he died in 1903. He made considerable contributions that were poorly recognised outside Italy.
Further reading & references
- Silve C, Juppner H; Ollier disease. Orphanet J Rare Dis. 2006 Sep 22;1:37.
- Chew DK, Menelaus MB, Richardson MD; Ollier's disease: varus angulation at the lower femur and its management. J Pediatr Orthop. 1998 Mar-Apr;18(2):202-8.
- Baumgart R, Burklein D, Hinterwimmer S, et al; The management of leg-length discrepancy in Ollier's disease with a fully implantable lengthening nail. J Bone Joint Surg Br. 2005 Jul;87(7):1000-4.
- Kolodziej L, Kolban M, Zacha S, et al; The use of the Ilizarov technique in the treatment of upper limb deformity in patients with Ollier's disease. J Pediatr Orthop. 2005 Mar-Apr;25(2):202-5.
- Watanabe K, Tsuchiya H, Sakurakichi K, et al; Treatment of lower limb deformities and limb-length discrepancies with the external fixator in Ollier's disease. J Orthop Sci. 2007 Sep;12(5):471-5. Epub 2007 Sep 28.
- Martson A, Haviko T, Kirjanen K; Extensive limb lengthening in Ollier's disease: 25-year follow-up. Medicina (Kaunas). 2005;41(10):861-6.
- Schwartz HS, Zimmerman NB, Simon MA, et al; The malignant potential of enchondromatosis. J Bone Joint Surg Am. 1987 Feb;69(2):269-74.
- Liu J, Hudkins PG, Swee RG, et al; Bone sarcomas associated with Ollier's disease. Cancer. 1987 Apr 1;59(7):1376-85.
|Original Author: Dr Richard Draper||Current Version: Dr Richard Draper|
|Last Checked: 25/08/2010||Document ID: 2540 Version: 22||© EMIS|
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