Vasumati I Patel, Karan R Thakkar, Shalini S Gupta, Meghna J Pujara
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引用次数: 0
Abstract
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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