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Enchondromatosis
2008-07-01
Twinkal C Pansuriya
 ,
Judith VMG Bovée
 
Affiliation
Dept of Pathology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands
Identity
Name
Enchondromatosis
Alias
Multiple chondromatosis , Multiple enchondromatosis
Note
Most enchondromas and or conventional central chondrosarcomas are solitary but some occur multiple in the context of a syndrome called enchondromatosis. It is rare and both sexes are equally affected. The enchondromatosis syndrome includes Ollier disease, Maffucci syndrome, spondyloenchondromatosis, metachondromatosis and generalized enchondromatosis.
, In 1978 Spranger et al summarized six different classes of enchondromatosis based on radiographic features. In 2005, Bhargava et al further delineated some of the syndromes and distinguished non-hereditary and hereditary forms.
Inheritance
Ollier disease and Maffucci syndrome are non-inherited disorders while spondyloenchondromatosis is inherited as an autosomal recessive disorder. However, there was a case reported by Robinson et al which showed autosomal dominant inheritance of spondyloenchondrodysplasia. Metachondromatosis follows an autosomal dominant inheritance pattern. With the exception of Ollier disease, in which PTHR1 mutations are found in a very small subset of patients, the responsible genes for these extremely rare syndromes are so far unknown.
Omim
137360 , 156250 , 166000 , 271550 , 607944
Mesh
D004687
Orphanet
296 Enchondromatosis
Umls
C0014084
Clinics
Note
Clinical behaviour is determined by size, number, location and evolution of enchondromas, age of onset and of diagnosis. The diagnosis is mainly based on clinical, histological and radiological evaluation. Usually enchondromas are asymptomatic but in case of symptomatic enchondromas (pain, increase in size), further investigations could be indicated. The clinical features of enchondromatosis depend upon the extent of disease and ranges from few small lesions to multiple, widely distributed lesions causing marked skeletal deformation. Microscopically, the lesions can be more cellular and cytologically atypical as compared to solitary enchondroma. Macroscopic examination of enchondromas shows marked expansion and cortical attenuation in large bones. Radiographically, the lesions of enchondromatosis typically show multiple, radiolucent or mineralized homogeneous well defined lesions with oval or elongated shape.
Phenotype and clinics
There are several cases reported in which disease is limited to multifocal involvement of a single bone while in other cases wide spread lesions and crippling deformation can be observed. The common site for development of enchondromas includes hand, foot, femur, humerus and forearm bones. Sometimes in case of severe condition, flat bones are also affected.
Neoplastic risk
There is an increased risk of development of malignant tumors. In Ollier disease and Maffucci syndrome 25-30% of cases undergo malignant transformation.
Treatment
Treatment depends on the type of enchondromatosis; it may include surgery, amputation, bone grafting and sclerotherapy.
Prognosis
The prognosis is dependent on the extent and severity of the disease. Cortical erosion, pathological fracture and extension of the tumor into soft tissues can be considered as a sign of malignancy.
Cytogenetics
Note
Karyotypes of patients with Ollier disease or Maffucci syndrome are normal.
Article Bibliography
Pubmed ID
Last Year
Title
Authors
17987186
2002
Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease.
Banks RJ et al
3873457
1985
Metachondromatosis. Report of four cases.
Bassett GS et al
6980764
1982
Metachondromatosis.
Beals RK et al
12027322
2002
Multiple enchondromatosis: a case report.
Benbouazza K et al
15887273
2005
Autosomal dominant inheritance of spondyloenchondrodysplasia.
Bhargava R et al
8465851
1993
Dysspondylochondromatosis.
Freisinger P et al
9546836
1998
Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome.
Haga N et al
6602353
1983
Metachondromatosis.
Kennedy LA et al
11807904
2002
Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up.
Kozlowski KS et al
1895320
1991
Genochondromatosis.
Le Merrer M et al
4586088
1973
Maffucci's syndrome: functional and neoplastic significance. Case report and review of the literature.
Lewis RJ et al
5313319
1971
[Metachondromatosis].
Maroteaux P et al
2912994
1989
Generalized enchondromatosis. A case report.
Paterson DC et al
1882681
1991
Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome.
Robinson D et al
1244645
1976
Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.
Schorr S et al
3805090
1987
The malignant potential of enchondromatosis.
Schwartz HS et al
733398
1978
Two peculiar types of enchondromatosis.
Spranger J et al
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