掌跖角化-牙周破坏综合征的研究进展
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摘要
掌跖角化-牙周破坏综合征(Papillon-Lefèvre syndrome,PLS,OMIM 245000)是一种罕见的常染色体隐性遗传性疾病,以掌跖角化症及快速进展的牙周组织破坏为特征。目前研究认为此疾病主要与组织蛋白酶C(cathepsin C,CTSC)基因的突变有关,亦有研究表明免疫因素、微生物因素及其他遗传因素参与,确切的病因尚未明确。国内外相关文献多为病案报道,对其病因及机制的研究较少。本文就PLS的临床表现、治疗措施、病因及发病机制的研究进展作一综述。
The Papillon-Lefèvre syndrome(PLS,OMIM 245000)is a rare autosomal recessive disorder characterized by a diffuse palmoplantar hyperkeratosis and rapid progressive periodontal devastation.Most researchers consider that PLS was caused by the mutations on the cathepsin C(CTSC)gene.Some studies indicate that immune factors,microbial factor,and other genetic factor participate in the process as well.However,the exact cause is still unknown.Most of the articles are case reports,and there are not enough researches on etiology and pathogenesis.This paper reviews the etiology,pathogenesis,clinical presentation,and treatment modalities of the disease.
The Papillon-Lefèvre syndrome(PLS,OMIM 245000)is a rare autosomal recessive disorder characterized by a diffuse palmoplantar hyperkeratosis and rapid progressive periodontal devastation.Most researchers consider that PLS was caused by the mutations on the cathepsin C(CTSC)gene.Some studies indicate that immune factors,microbial factor,and other genetic factor participate in the process as well.However,the exact cause is still unknown.Most of the articles are case reports,and there are not enough researches on etiology and pathogenesis.This paper reviews the etiology,pathogenesis,clinical presentation,and treatment modalities of the disease.
引文
[1]Hart TC,Shapira LS.Papillon-Lefèvre syndrome[J].Periodontol,2000,6(1)∶88-100
[2]刘翠娴,田智慧,阳奇,等.一个掌跖角化牙周破坏综合征家系CTSC基因的突变鉴定[J].中华医学遗传学杂志,2016,33(2)∶150-154
[3]Hart PS,Zhang Y,Firatli E,et al.Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients[J].J Med Gene,2000,37(12)∶927-932
[4]李晓峰,张雄,章锦才,等.一个掌跖角化牙周病变综合征家系的组织蛋白酶C基因突变分析[J].中华医学遗传学杂志,2008,25(5)∶502-505
[5]Wu W,Chen B,Chen X,et al.A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome[J].J Periodont Res,2016,51(3)∶376-380
[6]Wen X,Wang X,Duan X.High immunoglobulin E in a Chinese Papillon-Lefèvre syndrome patient with novel compound mutations of cathepsin C[J].J Dermatol,2012,39(7)∶664-665
[7]杨媛,白小文,刘宏胜,等.掌跖角化牙周病综合征患者组织蛋白酶C基因的新突变[J].中华口腔医学杂志,2006,41(10)∶602-605
[8]Yang Y,Bai X,Liu H,et al.Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome[J].J Dent Res,2007,86(8)∶735-738
[9]李智铭,刘晶晶,竺海刚,等.掌跖角化牙周病综合征一例及组织蛋白酶C基因突变检测[J].中华皮肤科杂志,2015,48(11)∶767-769
[10]陈远娇,李晨军.掌跖角化-牙周破坏综合征个案患者家系组织蛋白酶C的基因突变分析[J].华西口腔医学杂志,2016,34(4)∶346-349
[11]Pilger U,Hennies HC,Truschnegg A,et al.Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene[J].J Am Acad Dermatol,2003,49(5Suppl)∶S240-S243
[12]Khan FY,Jan SM,Mushtaq M.Papillon-Lefèvre syndrome(PLS)without cathepsin C mutation:A rare early onset partially penetrant variant of PLS[J].Saudi Dent J,2014,26(1)∶25-28
[13]Hewitt C,McCormick D,Linden G,et al.The role of cathepsin C in Papillon-Lefèvre syndrome,prepubertal periodontitis,and aggressive periodontitis[J].Hum Mutat,2004,23(3)∶222-228
[14]Noack B,G9rgens H,Hempel U,et al.Cathepsin C gene variants in aggressive periodontitis[J].J Dent Res,2008,87(10)∶958-963
[15]Romero-Quintana JG,Frías-Castro LO.Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients[J].BMC Med Genet,2013,14(1)∶7-11
[16]Eick S,Puklo M,Adamowicz K,et al.Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37in periodontal homeostasis[J].Orphanet J Rare Dis,2014,9(1)∶148
[17]Roberts H,White P,Dias I,et al.Characterization of neutrophil function in Papillon-Lefèvre syndrome[J].J Leukoc Biol,2016,100(2)∶433-444
[18]de Haar SF,Tigchelaar-Gutter W,Everts V,et al.Structure of the periodontium in cathepsin C-deficient mice[J].Eur J Oral Sci,2006,114(2)∶171-173
[19]Albandar JM,Khattab R,Monem F,et al.The subgingival microbiota of Papillon-Lefèvre syndrome[J].J Periodontol,2012,83(7)∶902-908
[20]Sulk A,Tth L,Farkas K,et al.One mutation,two phenotypes:a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes[J].Clin Exp Dermatol,2016,41(2)∶190-195
[21]Bloch-Zupan A.Hypophosphatasia:diagnosis and clinical signs-a dental surgeon perspective[J].Int J Paediatr Dent,2016,26(6)∶426-438
[22]Nilendu S,Chiranjit G,Sudipta K,et al.Low-dose acitretin in Papillon-Lefèvre syndrome:treatment and 1-year follow-up[J].Dermatol Ther,2015,28(1)∶28-31
[23]Ullbro C,Crossner C,Nederfos T,et al.Dermatologic and oral findings in cohort 47patients with Papillon-Lefèvre syndrome[J].J Am Acad Dermatol,2003,48(3)∶345-351
[24]Nickles K,Schacher B,Ratka K,et al.Long-term results after treatment of periodontitis in Papillon-Lefèvre syndrome:success and failure[J].J Clin Periodontol,2013,40(8)∶789-798
[25]Wang X,Liu Y,Liu Y,et al.Long-term change of disease behavior in Papillon-Lefèvre syndrome:Seven years follow-up[J].Eur J Med Genet,2015,58(3)∶184-187
[26]Ta爧li PN,Tap爧in S,Demirel S,et al.Isolation and characterization of dental pulp stem cells from a patient with Papillon-Lefèvre syndrome[J].J Endod,2013,39(1)∶31-38
[2]刘翠娴,田智慧,阳奇,等.一个掌跖角化牙周破坏综合征家系CTSC基因的突变鉴定[J].中华医学遗传学杂志,2016,33(2)∶150-154
[3]Hart PS,Zhang Y,Firatli E,et al.Identification of cathepsin C mutations in ethnically diverse Papillon-Lefèvre syndrome patients[J].J Med Gene,2000,37(12)∶927-932
[4]李晓峰,张雄,章锦才,等.一个掌跖角化牙周病变综合征家系的组织蛋白酶C基因突变分析[J].中华医学遗传学杂志,2008,25(5)∶502-505
[5]Wu W,Chen B,Chen X,et al.A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome[J].J Periodont Res,2016,51(3)∶376-380
[6]Wen X,Wang X,Duan X.High immunoglobulin E in a Chinese Papillon-Lefèvre syndrome patient with novel compound mutations of cathepsin C[J].J Dermatol,2012,39(7)∶664-665
[7]杨媛,白小文,刘宏胜,等.掌跖角化牙周病综合征患者组织蛋白酶C基因的新突变[J].中华口腔医学杂志,2006,41(10)∶602-605
[8]Yang Y,Bai X,Liu H,et al.Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefèvre syndrome[J].J Dent Res,2007,86(8)∶735-738
[9]李智铭,刘晶晶,竺海刚,等.掌跖角化牙周病综合征一例及组织蛋白酶C基因突变检测[J].中华皮肤科杂志,2015,48(11)∶767-769
[10]陈远娇,李晨军.掌跖角化-牙周破坏综合征个案患者家系组织蛋白酶C的基因突变分析[J].华西口腔医学杂志,2016,34(4)∶346-349
[11]Pilger U,Hennies HC,Truschnegg A,et al.Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene[J].J Am Acad Dermatol,2003,49(5Suppl)∶S240-S243
[12]Khan FY,Jan SM,Mushtaq M.Papillon-Lefèvre syndrome(PLS)without cathepsin C mutation:A rare early onset partially penetrant variant of PLS[J].Saudi Dent J,2014,26(1)∶25-28
[13]Hewitt C,McCormick D,Linden G,et al.The role of cathepsin C in Papillon-Lefèvre syndrome,prepubertal periodontitis,and aggressive periodontitis[J].Hum Mutat,2004,23(3)∶222-228
[14]Noack B,G9rgens H,Hempel U,et al.Cathepsin C gene variants in aggressive periodontitis[J].J Dent Res,2008,87(10)∶958-963
[15]Romero-Quintana JG,Frías-Castro LO.Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients[J].BMC Med Genet,2013,14(1)∶7-11
[16]Eick S,Puklo M,Adamowicz K,et al.Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37in periodontal homeostasis[J].Orphanet J Rare Dis,2014,9(1)∶148
[17]Roberts H,White P,Dias I,et al.Characterization of neutrophil function in Papillon-Lefèvre syndrome[J].J Leukoc Biol,2016,100(2)∶433-444
[18]de Haar SF,Tigchelaar-Gutter W,Everts V,et al.Structure of the periodontium in cathepsin C-deficient mice[J].Eur J Oral Sci,2006,114(2)∶171-173
[19]Albandar JM,Khattab R,Monem F,et al.The subgingival microbiota of Papillon-Lefèvre syndrome[J].J Periodontol,2012,83(7)∶902-908
[20]Sulk A,Tth L,Farkas K,et al.One mutation,two phenotypes:a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes[J].Clin Exp Dermatol,2016,41(2)∶190-195
[21]Bloch-Zupan A.Hypophosphatasia:diagnosis and clinical signs-a dental surgeon perspective[J].Int J Paediatr Dent,2016,26(6)∶426-438
[22]Nilendu S,Chiranjit G,Sudipta K,et al.Low-dose acitretin in Papillon-Lefèvre syndrome:treatment and 1-year follow-up[J].Dermatol Ther,2015,28(1)∶28-31
[23]Ullbro C,Crossner C,Nederfos T,et al.Dermatologic and oral findings in cohort 47patients with Papillon-Lefèvre syndrome[J].J Am Acad Dermatol,2003,48(3)∶345-351
[24]Nickles K,Schacher B,Ratka K,et al.Long-term results after treatment of periodontitis in Papillon-Lefèvre syndrome:success and failure[J].J Clin Periodontol,2013,40(8)∶789-798
[25]Wang X,Liu Y,Liu Y,et al.Long-term change of disease behavior in Papillon-Lefèvre syndrome:Seven years follow-up[J].Eur J Med Genet,2015,58(3)∶184-187
[26]Ta爧li PN,Tap爧in S,Demirel S,et al.Isolation and characterization of dental pulp stem cells from a patient with Papillon-Lefèvre syndrome[J].J Endod,2013,39(1)∶31-38