掌跖角化-牙周破坏综合征的研究进展  

Research Progress of Papillon-Lefèvre Syndrome

作　　者：吴越琳 赵蕾[1] 吴亚菲[1] WU Yue-lin;ZHAO Lei;WU Ya-fei(State Key Laboratory of Oral Diseases,National Clinical Research Center for Oral Diseases,Department of Periodontics,West China Hospital of Stomatology,Sichuan University,Chengdu 610041,China)

机构地区：[1]口腔疾病研究国家重点实验室,国家口腔疾病临床医学研究中心,四川大学华西口腔医院牙周病科,四川成都610041

出　　处：《口腔医学研究》2018年第9期928-931,共4页Journal of Oral Science Research

基　　金：国家自然科学基金(编号:81371150、81771077)

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.

关 键 词：掌跖角化-牙周破坏综合征 基因突变 病因 发病机制 牙周治疗 

分 类 号：R596.1[医药卫生—内科学]