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Int J Clin Exp Pathol 2010;3(6):557-569

Review Article
Enchondromatosis: insights on the different subtypes

Twinkal C. Pansuriya, Herman M. Kroon, Judith V.M.G. Bovee

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands;
Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands.

Received May 31, 2010, accepted June 18, 2010, available online June 26, 2010

Abstract: Enchondromatosis is a rare, heterogeneous skeletal disorder in which patients have multiple enchondromas. Enchondromas are
benign hyaline cartilage forming tumors in the medulla of metaphyseal bone. The disorder manifests itself early in childhood without any
significant gender bias. Enchondromatosis encompasses several different subtypes of which Ollier disease and Maffucci syndrome are most
common, while the other subtypes (metachondromatosis, genochondromatosis, spondyloenchondrodysplasia,
dysspondyloenchondromatosis and cheirospondyloenchondromatosis) are extremely rare. Most subtypes are non-hereditary, while some are
autosomal dominant or recessive. The gene(s) causing the different enchondromatosis syndromes are largely unknown. They should be
distinguished and adequately diagnosed, not only to guide therapeutic decisions and genetic counseling, but also with respect to research into
their etiology. For a long time enchondromas have been considered a developmental disorder caused by the failure of normal endochondral
bone formation. With the identification of genetic abnormalities in enchondromas however, they were being thought of as neoplasms. Active
hedgehog signaling is reported to be important for enchondroma development and PTH1R mutations have been identified in ~10% of Ollier
patients. One can therefore speculate that the gene(s) causing the different enchondromatosis subtypes are involved in hedgehog/PTH1R
growth plate signaling. Adequate distinction within future studies will shed light on whether these subtypes are different ends of a spectrum
caused by a single gene, or that they represent truely different diseases. We therefore review the available clinical information for all
enchondromatosis subtypes and discuss the little molecular data available hinting towards their cause. (IJCEP1005009).

Key words: Ollier disease, Maffucci syndrome, enchondroma, metachondromatosis, enchondromatosis, central chondrosarcoma

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Address all correspondence to:
Judith V.M.G.Bovee, MD, PhD
Department of Pathology
Leiden University Medical Center
Albinusdreef 2, 2333 ZA Leiden
The Netherlands.
Tel: +31715266617, Fax: +31715266952