Vasumati I Patel, Karan R Thakkar, Shalini S Gupta, Meghna J Pujara
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引用次数: 0
摘要
乳突-勒费弗综合征（PLS）是一种罕见的常染色体隐性遗传病，其特征是掌跖角化和乳牙和恒牙过早脱落。掌跖角化病通常在1至4岁之间发病，严重的牙周炎开始于3或4岁。在20%到40%的病例中，父母有血缘关系。管理和保存这些患者的牙齿对牙周病医生来说是一个挑战。遗传学研究表明，染色体11q14.1-q14.3的主要基因位点突变与组织蛋白酶- c （CTSC）基因的功能缺失是导致PLS的原因。早期诊断该综合征有助于通过早期治疗和多学科联合治疗来保护牙齿。在此，我们提出了四个具有该综合征所有特征的病例。
Papillon-Lefevre syndrome (PLS) is an exceptional autosomal recessive disorder characterized by palmoplantar keratinization and premature loss of deciduous and permanent teeth. The palmoplantar keratoderma commonly has its onset between the ages of 1 and 4 years with severe periodontitis initiating at 3 or 4 years old. Parental consanguinity has been demonstrated in 20% to 40% of the cases. Management and preservation of teeth in such patients is a challenge to periodontists. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14.1-q14.3 with the loss of function of the Cathepsin-C (CTSC) gene is responsible for PLS. An early diagnosis of the syndrome can help preserve the teeth through early institution of treatment, using a multidisciplinary approach. We hereby present four cases having all the characteristic features of the syndrome.
期刊介绍：
The journal of Oral and Maxillofacial Pathology [ISSN:print-(0973-029X, online-1998-393X)] is a tri-annual journal published on behalf of “The Indian Association of Oral and Maxillofacial Pathologists” (IAOMP). The publication of JOMFP was started in the year 1993. The journal publishes papers on a wide spectrum of topics associated with the scope of Oral and Maxillofacial Pathology, also, ensuring scientific merit and quality. It is a comprehensive reading material for the professionals who want to upgrade their diagnostic skills in Oral Diseases; allows exposure to newer topics and methods of research in the Oral-facial Tissues and Pathology. New features allow an open minded thinking and approach to various pathologies. It also encourages authors to showcase quality work done by them and to compile relevant cases which are diagnostically challenging. The Journal takes pride in maintaining the quality of articles and photomicrographs.
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