Metachondromatosis: more than just multiple osteochondromas
Introduction 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...
Ausführliche Beschreibung
Autor*in: |
Fisher, Thomas J. [verfasserIn] |
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E-Artikel |
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Englisch |
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2013 |
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Anmerkung: |
© EPOS 2013 |
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Übergeordnetes Werk: |
Enthalten in: Journal of children's orthopaedics - London : Sage, 2007, 7(2013), 6 vom: 21. Sept., Seite 455-464 |
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Übergeordnetes Werk: |
volume:7 ; year:2013 ; number:6 ; day:21 ; month:09 ; pages:455-464 |
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DOI / URN: |
10.1007/s11832-013-0526-3 |
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SPR022620311 |
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520 | |a Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. | ||
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700 | 1 | |a Morris, Lloyd |4 aut | |
700 | 1 | |a Cundy, Peter J. |4 aut | |
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10.1007/s11832-013-0526-3 doi (DE-627)SPR022620311 (SPR)s11832-013-0526-3-e DE-627 ger DE-627 rakwb eng Fisher, Thomas J. verfasserin aut Metachondromatosis: more than just multiple osteochondromas 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © EPOS 2013 Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. Metachondromatosis (dpeaa)DE-He213 Review (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Osteochondroma (dpeaa)DE-He213 Enchondromatosis (dpeaa)DE-He213 Williams, Nicole aut Morris, Lloyd aut Cundy, Peter J. aut Enthalten in Journal of children's orthopaedics London : Sage, 2007 7(2013), 6 vom: 21. Sept., Seite 455-464 (DE-627)523858221 (DE-600)2268264-8 1863-2548 nnns volume:7 year:2013 number:6 day:21 month:09 pages:455-464 https://dx.doi.org/10.1007/s11832-013-0526-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2057 GBV_ILN_2190 GBV_ILN_2707 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 6 21 09 455-464 |
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10.1007/s11832-013-0526-3 doi (DE-627)SPR022620311 (SPR)s11832-013-0526-3-e DE-627 ger DE-627 rakwb eng Fisher, Thomas J. verfasserin aut Metachondromatosis: more than just multiple osteochondromas 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © EPOS 2013 Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. Metachondromatosis (dpeaa)DE-He213 Review (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Osteochondroma (dpeaa)DE-He213 Enchondromatosis (dpeaa)DE-He213 Williams, Nicole aut Morris, Lloyd aut Cundy, Peter J. aut Enthalten in Journal of children's orthopaedics London : Sage, 2007 7(2013), 6 vom: 21. Sept., Seite 455-464 (DE-627)523858221 (DE-600)2268264-8 1863-2548 nnns volume:7 year:2013 number:6 day:21 month:09 pages:455-464 https://dx.doi.org/10.1007/s11832-013-0526-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2057 GBV_ILN_2190 GBV_ILN_2707 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 6 21 09 455-464 |
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10.1007/s11832-013-0526-3 doi (DE-627)SPR022620311 (SPR)s11832-013-0526-3-e DE-627 ger DE-627 rakwb eng Fisher, Thomas J. verfasserin aut Metachondromatosis: more than just multiple osteochondromas 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © EPOS 2013 Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. Metachondromatosis (dpeaa)DE-He213 Review (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Osteochondroma (dpeaa)DE-He213 Enchondromatosis (dpeaa)DE-He213 Williams, Nicole aut Morris, Lloyd aut Cundy, Peter J. aut Enthalten in Journal of children's orthopaedics London : Sage, 2007 7(2013), 6 vom: 21. Sept., Seite 455-464 (DE-627)523858221 (DE-600)2268264-8 1863-2548 nnns volume:7 year:2013 number:6 day:21 month:09 pages:455-464 https://dx.doi.org/10.1007/s11832-013-0526-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2057 GBV_ILN_2190 GBV_ILN_2707 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 6 21 09 455-464 |
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10.1007/s11832-013-0526-3 doi (DE-627)SPR022620311 (SPR)s11832-013-0526-3-e DE-627 ger DE-627 rakwb eng Fisher, Thomas J. verfasserin aut Metachondromatosis: more than just multiple osteochondromas 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © EPOS 2013 Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. Metachondromatosis (dpeaa)DE-He213 Review (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Osteochondroma (dpeaa)DE-He213 Enchondromatosis (dpeaa)DE-He213 Williams, Nicole aut Morris, Lloyd aut Cundy, Peter J. aut Enthalten in Journal of children's orthopaedics London : Sage, 2007 7(2013), 6 vom: 21. Sept., Seite 455-464 (DE-627)523858221 (DE-600)2268264-8 1863-2548 nnns volume:7 year:2013 number:6 day:21 month:09 pages:455-464 https://dx.doi.org/10.1007/s11832-013-0526-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2057 GBV_ILN_2190 GBV_ILN_2707 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 6 21 09 455-464 |
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10.1007/s11832-013-0526-3 doi (DE-627)SPR022620311 (SPR)s11832-013-0526-3-e DE-627 ger DE-627 rakwb eng Fisher, Thomas J. verfasserin aut Metachondromatosis: more than just multiple osteochondromas 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © EPOS 2013 Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. Metachondromatosis (dpeaa)DE-He213 Review (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Osteochondroma (dpeaa)DE-He213 Enchondromatosis (dpeaa)DE-He213 Williams, Nicole aut Morris, Lloyd aut Cundy, Peter J. aut Enthalten in Journal of children's orthopaedics London : Sage, 2007 7(2013), 6 vom: 21. Sept., Seite 455-464 (DE-627)523858221 (DE-600)2268264-8 1863-2548 nnns volume:7 year:2013 number:6 day:21 month:09 pages:455-464 https://dx.doi.org/10.1007/s11832-013-0526-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2006 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2018 GBV_ILN_2020 GBV_ILN_2057 GBV_ILN_2190 GBV_ILN_2707 GBV_ILN_2890 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 6 21 09 455-464 |
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Metachondromatosis: more than just multiple osteochondromas |
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Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. © EPOS 2013 |
abstractGer |
Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. © EPOS 2013 |
abstract_unstemmed |
Introduction 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. Methods We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis. Results 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. Conclusion 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. © EPOS 2013 |
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score |
7.400652 |