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Papillon-Lefevre Syndrome: A Case Report

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Author(s): Sanchita Kundu | Sanchita Kundu Shabnam Zahir

Journal: Oral & Maxillofacial Pathology Journal
ISSN 0976-1225

Volume: 3;
Issue: 2;
Start page: 269;
Date: 2012;
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Keywords: Papillon-Lefevre syndrome | palmoplanter hyperkeratosis | periodontitis

ABSTRACT
Papillon-Lefevre Syndrome is a very rare syndrome of autosomal recessiveinheritance characterized by palmer-planter hyperkeratosis and early onset of a severedestructive periodontitis., leading to premature loss of both primary and permanentdentitions.Genetic studies have shown that mutations in the major gene locus ofchromosome 11q14 with loss of function of cathepsin C gene are responsible for thissyndrome. An early diagnosis and intervention can help to preserve teeth and preventtheir premature exfoliation. A clinical case of Papillon- Lefevre syndrome isdiscussed herewith having all of the characteristic features.
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