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dc.contributor.authorFisher, T.en
dc.contributor.authorWilliams, N.en
dc.contributor.authorMorris, L.en
dc.contributor.authorCundy, P.en
dc.identifier.citationJournal of Children's Orthopaedics, 2013; 7(6):455-464en
dc.description.abstractMetachondromatosis 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.We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis.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.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.en
dc.description.statementofresponsibilityThomas J. Fisher, Nicole Williams, Lloyd Morris, Peter J. Cundyen
dc.rights© EPOS 2013en
dc.subjectMetachondromatosis; Review; Case report; Osteochondroma; Enchondromatosisen
dc.titleMetachondromatosis: more than just multiple osteochondromasen
dc.typeJournal articleen
pubs.library.collectionOrthopaedics and Trauma publicationsen
dc.identifier.orcidWilliams, N. [0000-0001-9451-4456]en
dc.identifier.orcidCundy, P. [0000-0002-8050-6153]en
Appears in Collections:Orthopaedics and Trauma publications

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