Cancer prone diseases
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Twinkal C Pansuriya
Judith VMG Bovée
Dept of Pathology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands
Multiple chondromatosis , Multiple enchondromatosis
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.
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.
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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.
There is an increased risk of development of malignant tumors. In Ollier disease and Maffucci syndrome 25-30% of cases undergo malignant transformation.
Treatment depends on the type of enchondromatosis; it may include surgery, amputation, bone grafting and sclerotherapy.
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.
Karyotypes of patients with Ollier disease or Maffucci syndrome are normal.
Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease.
Banks RJ et al
Metachondromatosis. Report of four cases.
Bassett GS et al
Beals RK et al
Multiple enchondromatosis: a case report.
Benbouazza K et al
Autosomal dominant inheritance of spondyloenchondrodysplasia.
Bhargava R et al
Freisinger P et al
Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome.
Haga N et al
Kennedy LA et al
Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up.
Kozlowski KS et al
Le Merrer M et al
Maffucci's syndrome: functional and neoplastic significance. Case report and review of the literature.
Lewis RJ et al
Maroteaux P et al
Generalized enchondromatosis. A case report.
Paterson DC et al
Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome.
Robinson D et al
Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.
Schorr S et al
The malignant potential of enchondromatosis.
Schwartz HS et al
Two peculiar types of enchondromatosis.
Spranger J et al
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