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      Papillon-Lefevre syndrome: A report of two cases

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          Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis. Genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of cathepsin C gene are responsible for Papillon-Lefevre syndrome. This report presents two siblings with classic signs and symptoms of Papillon-Lefevre syndrome. The exact cause for periodontal destruction in patients with Papillon-Lefevre syndrome is not known but it is thought to be due to defect in neutrophil function, immune suppression and mutations in cathepsin C gene.

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          Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.

          Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions. A major gene locus for PLS has been mapped to a 2.8 cM interval on chromosome 11q14. Correlation of physical and genetic maps of this interval indicate it includes at least 40 ESTs and six known genes including the lysosomal protease cathepsin C gene (CTSC). The CTSC message is expressed at high levels in a variety of immune cells including polymorphonuclear leucocytes, macrophages, and their precursors. By RT-PCR, we found CTSC is also expressed in epithelial regions commonly affected by PLS, including the palms, soles, knees, and oral keratinised gingiva. The 4.7 kb CTSC gene consists of two exons. Sequence analysis of CTSC from subjects affected with PLS from five consanguineous Turkish families identified four different mutations. An exon 1 nonsense mutation (856C-->T) introduces a premature stop codon at amino acid 286. Three exon 2 mutations were identified, including a single nucleotide deletion (2692delA) of codon 349 introducing a frameshift and premature termination codon, a 2 bp deletion (2673-2674delCT) that results in introduction of a stop codon at amino acid 343, and a G-->A substitution in codon 429 (2931G-->A) introducing a premature termination codon. All PLS patients were homozygous for cathepsin C mutations inherited from a common ancestor. Parents and sibs heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS. A more complete understanding of the functional physiology of cathepsin C carries significant implications for understanding normal and abnormal skin development and periodontal disease susceptibility.
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            Papillon-Lefèvre syndrome.

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              A new look at the etiology and pathogenesis of early-onset periodontitis. Cementopathia revisited.

               D Baab,  Robert C Page (1985)
              For more than 20 years, investigators have unanimously agreed that human periodontitis is caused by bacterial colonization of the surfaces of the teeth and their extension apically. Recently, several investigators have demonstrated that most, if not all, individuals manifesting the early-onset, aggressive forms of periodontitis have abnormalities in their peripheral blood phagocytes which can be detected as abnormal cell motility or adherence. Because of the major role of these cells, especially the neutrophilic granulocytes, in host defense against the microbial onslaught at the gingival sulcus, these leukocyte abnormalities have been considered to be the major determinant of susceptibility to microbial infection and invasion of the periodontal tissues. In recent years the possibility that other etiologies may be involved has not been seriously considered. The purpose of the present communication is to focus attention on the idea that factors other than bacteria and host defense mechanisms may be of significance. We specifically want to call attention to a potentially important role for root cementum.

                Author and article information

                J Indian Soc Periodontol
                Journal of Indian Society of Periodontology
                Medknow Publications & Media Pvt Ltd (India )
                Oct-Dec 2010
                : 14
                : 4
                : 275-278
                Department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi-Mumbai, Maharashtra, India
                Author notes
                Address for correspondence:Dr. Nilesh V. Joshi, Department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University, Dental College and Hospital, Navi-Mumbai - 400 614, Maharashtra, India. nileshjo@ 123456yahoo.co.in
                Copyright: © Journal of Indian Society of Periodontology

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                Case Report


                periodontitis, papillon-lefevre syndrome, cathepsin c gene


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