Papillon-Lefevre syndrome: Case series

帕皮隆-勒费弗尔综合征:病例系列

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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.

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