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Abstract：
Papillon-Lefevre syndrome (PLS) manifests as an autosomal recessive disorder caused by a mutation in the cathepsin C (CTSC) gene. This genetic alteration results in palmoplantar hyperkeratosis, rapid onset of periodontitis, and premature shedding of both primary and permanent teeth. The major etiological factor responsible for the development of this disorder appears to be variations in the CTSC gene, which is responsible for the production of the cathepsin C enzyme in the body. The multifactorial aetiology of the syndrome is influenced by immunologic, genetic, or microbial factors. This case report presents a clinical picture of a 21-year-old Indian male patient with oligodontia and mobile teeth accompanied by palmoplantar keratosis and a history of recurrent infection. The detailed family history of the patient revealed genetic relevance with PLS. This article will discuss in detail the diagnosis, evaluation and treatment modalities involved in the management of the case.
摘要：
乳头-Lefevre综合征（PLS）表现为由组织蛋白酶C（CTSC）基因突变引起的常染色体隐性遗传疾病。这种遗传改变导致掌足底角化过度，牙周炎的快速发作，以及乳牙和恒牙的过早脱落。导致这种疾病发展的主要病因似乎是CTSC基因的变异，它负责在体内产生组织蛋白酶C酶。该综合征的多因素病因受免疫学的影响，遗传,或微生物因素。此病例报告介绍了一名21岁的印度男性患者的临床表现，该患者患有少牙和活动牙齿，并伴有掌plant角化病和反复感染史。患者的详细家族史显示与PLS的遗传相关性。本文将详细讨论诊断，病例管理中涉及的评估和治疗方式。
