Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Enchondromatosis

Written2008-07Twinkal C Pansuriya, Judith VMG Bovée
Dept of Pathology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands

(Note : for Links provided by Atlas : click)
 

Identity

Other namesMultiple chondromatosis
Multiple enchondromatosis
Atlas_Id 10151
Genes implicated inACP5  PTPN11  
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.
 

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.

Bibliography

Pathological fractures, a consideration with metachondromatosis and differential diagnoses: Osteochondromatosis and Gauchers Disease.
Banks RJ.
Australas Chiropr Osteopathy. 2002 Nov;10(2):105-10.
PMID 17987186
 
Metachondromatosis. Report of four cases.
Bassett GS, Cowell HR.
J Bone Joint Surg Am. 1985 Jun;67(5):811-4.
PMID 3873457
 
Metachondromatosis.
Beals RK.
Clin Orthop Relat Res. 1982 Sep;(169):167-70.
PMID 6980764
 
Multiple enchondromatosis: a case report.
Benbouazza K, El Hassani S, Hassikou H, Guedira N, Hajjaj-Hassouni N.
Joint Bone Spine. 2002 Mar;69(2):236-9.
PMID 12027322
 
Autosomal dominant inheritance of spondyloenchondrodysplasia.
Bhargava R, Leonard NJ, Chan AK, Spranger J.
Am J Med Genet A. 2005 Jun 15;135(3):282-8.
PMID 15887273
 
Dysspondylochondromatosis.
Freisinger P, Finidori G, Maroteaux P.
Am J Med Genet. 1993 Feb 15;45(4):460-4.
PMID 8465851
 
Enchondromatosis with features of dysspondyloenchondromatosis and Maffucci syndrome.
Haga N, Nakamura K, Taniguchi K, Nakamura S.
Clin Dysmorphol. 1998 Jan;7(1):65-8.
PMID 9546836
 
Metachondromatosis.
Kennedy LA.
Radiology. 1983 Jul;148(1):117-8.
PMID 6602353
 
Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up.
Kozlowski KS, Masel J.
Am J Med Genet. 2002 Jan 22;107(3):227-32.
PMID 11807904
 
Genochondromatosis.
Le Merrer M, Fressinger P, Maroteaux P.
J Med Genet. 1991 Jul;28(7):485-9.
PMID 1895320
 
Maffucci's syndrome: functional and neoplastic significance. Case report and review of the literature.
Lewis RJ, Ketcham AS.
J Bone Joint Surg Am. 1973 Oct;55(7):1465-79.
PMID 4586088
 
Metachondromatosis.
Maroteaux P.
Z Kinderheilkd. 1971;109(3):246-61.
PMID 5313319
 
Radiological Atlas of Bone tumors.
Mulder JD, Schutte HE, Kroon HM, Takonis WK.
1993, Amsterdam: Elsevier.
 
Generalized enchondromatosis. A case report.
Paterson DC, Morris LL, Binns GF, Kozlowski K.
J Bone Joint Surg Am. 1989 Jan;71(1):133-40.
PMID 2912994
 
Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome.
Robinson D, Tieder M, Copeliovitch L, Halperin N.
Acta Orthop Scand. 1991 Aug;62(4):375-8.
PMID 1882681
 
Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.
Schorr S, Legum C, Ochshorn M.
Radiology. 1976 Jan;118(1):133-9.
PMID 1244645
 
The malignant potential of enchondromatosis.
Schwartz HS, Zimmerman NB, Simon MA, Wroble RR, Millar EA, Bonfiglio M.
J Bone Joint Surg Am. 1987 Feb;69(2):269-74.
PMID 3805090
 
Two peculiar types of enchondromatosis.
Spranger J, Kemperdieck H, Bakowski H, Opitz JM.
Pediatr Radiol. 1978 Dec 4;7(4):215-9.
PMID 733398
 
Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development.
Spranger JW, Brill PW, Poznanski A.
Second edition, 2002, Oxford University Press.
 

Citation

This paper should be referenced as such :
Pansuriya, TC ; Bovée, JVMG
Enchondromatosis
Atlas Genet Cytogenet Oncol Haematol. 2009;13(7):524-526.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/EnchondromatosisID10151.html


REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 17:20:39 CEST 2017


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.