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Type: Journal article
Title: Metachondromatosis: more than just multiple osteochondromas
Author: Fisher, T.
Williams, N.
Morris, L.
Cundy, P.
Citation: Journal of Children's Orthopaedics, 2013; 7(6):455-464
Publisher: Springer
Issue Date: 2013
ISSN: 1863-2521
Statement of
Thomas J. Fisher, Nicole Williams, Lloyd Morris, Peter J. Cundy
Abstract: <h4>Introduction</h4>Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple exostoses by the distribution and orientation of lesions, and pattern of inheritance. Lesions typically occur in hands, feet, femora, tibiae and the pelvis. Lesions are typically reported to regress in adulthood.<h4>Methods</h4>We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis.<h4>Results</h4>Long-term follow up data reveal spontaneous regression of lesions by skeletal maturity. Complications may include nerve palsy due to the mass effect of lesions, avascular necrosis of the femoral head and angular deformity of long bones. Histopathological analysis has demonstrated that lesions in metachondromatosis are a mix of osteochondromas and enchondromas; however, one case of chondrosarcoma has been reported.<h4>Conclusion</h4>Lesions associated with metachondromatosis may cause a variety of complications due to mass effects; however, they are often asymptomatic, cause cosmetic concerns and, importantly, most regress spontaneously. Regular clinical review with selective imaging to monitor for such complications is appropriate, but uncomplicated lesions are unlikely to require surgical intervention.
Keywords: Metachondromatosis
Case report
Rights: © EPOS 2013
DOI: 10.1007/s11832-013-0526-3
Appears in Collections:Aurora harvest 4
Orthopaedics and Trauma publications

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