PDF(Pubmed)
Abstract：
Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis. Genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of cathepsin C gene are responsible for Papillon-Lefevre syndrome. This report presents two siblings with classic signs and symptoms of Papillon-Lefevre syndrome. The exact cause for periodontal destruction in patients with Papillon-Lefevre syndrome is not known but it is thought to be due to defect in neutrophil function, immune suppression and mutations in cathepsin C gene.
摘要：
Papillon-Lefevre综合征是一种罕见的（每百万1-4例）常染色体隐性遗传疾病，主要表现为口腔和皮肤病学表现，表现为侵袭性牙周炎，影响原发性和永久性牙列以及掌足底角化过度。遗传研究表明，染色体11q14的主要基因座中的突变与组织蛋白酶C基因的功能丧失有关。本报告介绍了两个兄弟姐妹，他们具有Papillon-Lefevre综合征的经典体征和症状。Papillon-Lefevre综合征患者牙周破坏的确切原因尚不清楚，但被认为是由于中性粒细胞功能缺陷，免疫抑制和组织蛋白酶C基因突变。
