牙周病型Ehlers-Danlos综合征研究进展
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摘要
Ehlers-Danlos综合征(Ehlers-Danlos syndromes,EDS)是一组罕见的遗传异质性结缔组织疾病,表现为广泛的不同程度的皮肤、韧带、血管和内部器官结缔组织脆性增加,主要临床特征包括皮肤脆弱、易擦伤、皮肤弹性过度和关节活动过度等。2017年,国际EDS联盟重新修订了EDS分类方法,根据临床表现、分子诊断及致病基因将其分为13型,其中造成早期牙周组织严重破坏和牙齿松动脱落的主要是牙周病型EDS。文章就牙周病型EDS的研究进展做一综述。
Ehlers-Danlos syndromes(EDS),a clinically and genetically heterogeneous group of rare hereditary disorders,is characterized by various degrees of connective tissue fragility,mainly affecting skin,ligaments,blood vessels and internal organs. Principal clinical features are tissue fragility,skin hyperextensibility and joint hypermobility. In 2017,the international EDS consortium published a revised EDS classification scheme based on molecular diagnosis and identification of the causative genetic variants. The new classification recognizes 13 subtypes and periodontal manifestations are commonly observed in patients with periodontal EDS,which is characterized by early-onset severe periodontal disease with premature mobility and even loss of teeth. We aimed to review the research progress in periodontal EDS.
Ehlers-Danlos syndromes(EDS),a clinically and genetically heterogeneous group of rare hereditary disorders,is characterized by various degrees of connective tissue fragility,mainly affecting skin,ligaments,blood vessels and internal organs. Principal clinical features are tissue fragility,skin hyperextensibility and joint hypermobility. In 2017,the international EDS consortium published a revised EDS classification scheme based on molecular diagnosis and identification of the causative genetic variants. The new classification recognizes 13 subtypes and periodontal manifestations are commonly observed in patients with periodontal EDS,which is characterized by early-onset severe periodontal disease with premature mobility and even loss of teeth. We aimed to review the research progress in periodontal EDS.
引文
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[2]Kapferer-Seebacher I,Lundberg P,Malfait F,et al.Periodontal manifestations of Ehlers-Danlos syndromes:A systematic review[J].J Clin Periodontol,2017,44(11):1088-1100.
[3]Malfait F,Francomano C,Byers P,et al.The 2017 international classification of the Ehlers-Danlosn syndromes[J].Am J Med Genet C Semin Med Genet,2017,175(1):8-26.
[4]Beighton P,de Paepe A,Danks D,et al.International nosology of heritable disorders of connective tissue,Berlin,1986[J].Am JMed Genet,1988,29(3):581-594.
[5]Beighton P,De Paepe A,Steinmann B,et al.Ehlers-Danlos syndromes:revised nosology,Villefranche,1997.Ehlers-Danlos National Foundation(USA)and Ehlers-Danlos Support Group(UK)[J].Am J Med Genet,1998,77(1):31-37.
[6]Stewart RE,Hollister DW,Rimoin DL.A new variant of EhlersDanlos syndrome:An autosomal dominant disorder of fragile skin,abnormal scarring,and generalized periodontitis[J].Birth Defects Orig Artic Ser,1977,13(3B):85-93.
[7]Wu J,Yang J,Zhao J,et al.A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene[J].J Clin Periodontol,2018,45(11):1311-1318.
[8]Rahman N,Dunstan M,Teare MD,et al.Ehlers-Danlos syndrome with severe early-onset periodontal disease(EDS-Ⅷ)is a distinct,heterogeneous disorder with one predisposition gene at chromosome 12p13[J].Am J Hum Genet,2003,73(1):198-204.
[9]Kapferer-Seebacher I,Pepin M,Werner R,et al.Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S,which encode subcomponents C1r and C1s of complement[J].Am J Hum Genet,2016,99(5):1005-1014.
[10]Damgaard C,Holmstrup P,Van Dyke TE,et al.The complement system and its role in the pathogenesis of periodontitis:current concepts[J].J Periodontal Res,2015,50(3):283-293.
[11]De Paepe A,Malfait F.Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders[J].Br J Haematol,2004,127(5):491-500.
[12]Rinner A,Zschocke J,Schossig A,et al.High risk of peri-implant disease in periodontal Ehlers Danlos syndrome.A case series[J].Clin Oral Implants Res,2018.Epub ahead of print.
[2]Kapferer-Seebacher I,Lundberg P,Malfait F,et al.Periodontal manifestations of Ehlers-Danlos syndromes:A systematic review[J].J Clin Periodontol,2017,44(11):1088-1100.
[3]Malfait F,Francomano C,Byers P,et al.The 2017 international classification of the Ehlers-Danlosn syndromes[J].Am J Med Genet C Semin Med Genet,2017,175(1):8-26.
[4]Beighton P,de Paepe A,Danks D,et al.International nosology of heritable disorders of connective tissue,Berlin,1986[J].Am JMed Genet,1988,29(3):581-594.
[5]Beighton P,De Paepe A,Steinmann B,et al.Ehlers-Danlos syndromes:revised nosology,Villefranche,1997.Ehlers-Danlos National Foundation(USA)and Ehlers-Danlos Support Group(UK)[J].Am J Med Genet,1998,77(1):31-37.
[6]Stewart RE,Hollister DW,Rimoin DL.A new variant of EhlersDanlos syndrome:An autosomal dominant disorder of fragile skin,abnormal scarring,and generalized periodontitis[J].Birth Defects Orig Artic Ser,1977,13(3B):85-93.
[7]Wu J,Yang J,Zhao J,et al.A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene[J].J Clin Periodontol,2018,45(11):1311-1318.
[8]Rahman N,Dunstan M,Teare MD,et al.Ehlers-Danlos syndrome with severe early-onset periodontal disease(EDS-Ⅷ)is a distinct,heterogeneous disorder with one predisposition gene at chromosome 12p13[J].Am J Hum Genet,2003,73(1):198-204.
[9]Kapferer-Seebacher I,Pepin M,Werner R,et al.Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S,which encode subcomponents C1r and C1s of complement[J].Am J Hum Genet,2016,99(5):1005-1014.
[10]Damgaard C,Holmstrup P,Van Dyke TE,et al.The complement system and its role in the pathogenesis of periodontitis:current concepts[J].J Periodontal Res,2015,50(3):283-293.
[11]De Paepe A,Malfait F.Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders[J].Br J Haematol,2004,127(5):491-500.
[12]Rinner A,Zschocke J,Schossig A,et al.High risk of peri-implant disease in periodontal Ehlers Danlos syndrome.A case series[J].Clin Oral Implants Res,2018.Epub ahead of print.