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Papillon-Lefèvre Syndrome Ashley L. Paulus, DDS Pediatric Dentistry Resident April 13, 2009
Papillon-Lefèvre Syndrome <ul><li>First described by two French physicians, Papillon and Lefèvre, in 1924  </li></ul><ul><...
 
Papillon-Lefèvre Syndrome <ul><li>Rapid generalized periodontal destruction of alveolar bone (primary and secondary dentit...
CTSC gene <ul><li>In humans,  Cathepsin C  is coded by the  CTSC gene </li></ul><ul><li>Located on chromosome 11q14-q21 </...
Cathepsin C <ul><li>Found in PMN and leukocyte granules, important in protein degradation and proenzyme activation in PMNs...
 
Papillon-Lefèvre Syndrome <ul><li>The exact cause of periodontal disease in PLS has not been found but it has been attribu...
Immunology <ul><li>Neutrophils create a barrier along the junctional epithelium and within the gingival crevice </li></ul>...
Neutrophils and Periodontal Disease <ul><li>Evidence that neutrophils are protective against periodontal destruction: </li...
 
Papillon-Lefèvre Syndrome
A. actinomycetemcomitans <ul><li>Facultatively anaerobic nonmotile gram-negative rod </li></ul><ul><li>Produces virulence ...
A. a.  Leukotoxin <ul><li>116-kDa pore-forming leukotoxin belonging to the repeat-in-toxins (RTX) </li></ul><ul><ul><li>Ef...
IgG2 <ul><li>Alteration in immunoglobins present in PLS </li></ul><ul><li>Elevated levels of salivary and serum IgG2 antib...
 
PLS vs Haim-Munk Syndrome  PLS HMS Cathepsin C gene mutation 2126C  T substitution 2127A  G substitution Palmoplantar ke...
Haim-Munk Syndrome
PLS vs Non-Syndromic Prepubertal Periodontitis  PLS NS-PPP Cathepsin C gene mutation 2126C  T substitution  1040A  G sub...
PLS vs LJP PLS LJP CTSC gene defect Y N A. a. Y Y Reduced chemotaxis Y Y PMN defect  Y  Y Teeth effected Generalized Local...
 
Hyperkeratosis of the palms of the hands and soles of the feet
Dermatologic Treatment  <ul><li>A multidisciplinary approach is important for the care of patients with PLS, skin manifest...
Aggressive Periodontits in PLS
Periodontal Treatment
Periodontal Treatment <ul><li>Early treatment  and  compliance  with the prevention program are the major determinants for...
Pyogenic Liver Abscess in PLS
References <ul><li>Ullbro C, Brown A, Twetman S. Preventive Periodontal Regimen in Papillon-Lefèvre Syndrome. Pediatric De...
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Papillon-Lefèvre Syndrome Ashley L. Paulus, DDS

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Papillon-Lefèvre Syndrome Ashley L. Paulus, DDS

  1. 1. Papillon-Lefèvre Syndrome Ashley L. Paulus, DDS Pediatric Dentistry Resident April 13, 2009
  2. 2. Papillon-Lefèvre Syndrome <ul><li>First described by two French physicians, Papillon and Lefèvre, in 1924 </li></ul><ul><li>Prevalence of 1-4 cases per million persons </li></ul><ul><li>Consanguinity between parents in 1/3 of cases </li></ul><ul><li>Males and females are equally affected with no racial predominance </li></ul><ul><li>Rare genetic disorder </li></ul><ul><li>Autosomal recessive </li></ul>
  3. 4. Papillon-Lefèvre Syndrome <ul><li>Rapid generalized periodontal destruction of alveolar bone (primary and secondary dentition) </li></ul><ul><li>Palmar-plantar hyperkeratosis </li></ul>
  4. 5. CTSC gene <ul><li>In humans, Cathepsin C is coded by the CTSC gene </li></ul><ul><li>Located on chromosome 11q14-q21 </li></ul><ul><li>Encodes a cysteine-lysosomal protease known as dipeptidyl-peptidase I or Cathepsin C </li></ul><ul><ul><li>Appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells </li></ul></ul>
  5. 6. Cathepsin C <ul><li>Found in PMN and leukocyte granules, important in protein degradation and proenzyme activation in PMNs and T-cells </li></ul><ul><ul><li>CTSC required for processing and activation of the T-lymphocyte granzymes A and B, the key agents of T cell-mediated cell killing </li></ul></ul><ul><ul><li>Activator of the PMN-derived serine proteinases elastase, cathepin G, and proteinase 3 </li></ul></ul><ul><ul><ul><li>These serine proteases are implicated in a wide variety of immune and inflammatory processes </li></ul></ul></ul><ul><li>A lack of functional cathepsin C may be associated with a reduced host response against plaque bacteria </li></ul>
  6. 8. Papillon-Lefèvre Syndrome <ul><li>The exact cause of periodontal disease in PLS has not been found but it has been attributed to: </li></ul><ul><ul><li>Neutrophil defects: </li></ul></ul><ul><ul><ul><li>Decreased neutrophil chemotaxis and phagocytosis </li></ul></ul></ul><ul><ul><li>Bacterial infection </li></ul></ul><ul><ul><ul><li>A. actinomycetemcomitans </li></ul></ul></ul><ul><ul><li>Natural killer cell defect: </li></ul></ul><ul><ul><ul><li>Cytotoxicity </li></ul></ul></ul>
  7. 9. Immunology <ul><li>Neutrophils create a barrier along the junctional epithelium and within the gingival crevice </li></ul><ul><li>Neutrophils are the first line of defense against dental plaque microorganisms </li></ul>
  8. 10. Neutrophils and Periodontal Disease <ul><li>Evidence that neutrophils are protective against periodontal destruction: </li></ul><ul><ul><li>First, primary neutrophil or myeloid abnormalities have been associated with severe periodontal destruction. </li></ul></ul><ul><ul><li>Second, otherwise healthy individuals with severe periodontal problems appear to have subtle defects in their neutrophils. </li></ul></ul><ul><ul><li>Third, experimental neutropenia in animals leads to rapid periodontal infection. </li></ul></ul>
  9. 12. Papillon-Lefèvre Syndrome
  10. 13. A. actinomycetemcomitans <ul><li>Facultatively anaerobic nonmotile gram-negative rod </li></ul><ul><li>Produces virulence factors to promote its colonization and survival </li></ul><ul><ul><li>Leukotoxin is the prime virulence factor of A.a. </li></ul></ul><ul><li>Five distinct serotypes of A.a. </li></ul><ul><ul><li>Serotype B most commonly associated with diseased sites </li></ul></ul>
  11. 14. A. a. Leukotoxin <ul><li>116-kDa pore-forming leukotoxin belonging to the repeat-in-toxins (RTX) </li></ul><ul><ul><li>Effects myeloid cells, such as PMNs and monocytes, and causes degranulation </li></ul></ul><ul><li>Cathepsin G and elastase from PMNs degrade this toxin extracellulary </li></ul><ul><ul><li>Cathepsin C activates the PMN-derived serine proteinases elastase and cathepsin G </li></ul></ul><ul><ul><li>Decreases PMN ability to neutralize leukotoxin </li></ul></ul>
  12. 15. IgG2 <ul><li>Alteration in immunoglobins present in PLS </li></ul><ul><li>Elevated levels of salivary and serum IgG2 antibody to A.a. in PLS </li></ul><ul><ul><li>Serum antibody IgG2 = weak complement fixation activity and poor opsonization compared to other IgG subclasses </li></ul></ul><ul><li>IgG2 production dependant upon Th1 </li></ul>Name Percent Crosses placenta easily Complement activator Binds to Fc receptor on phagocytic cells IgG1 70% Y second highest high affinity IgG2 20% N third highest extremely low affinity IgG3 8% Y highest high affinity IgG4 2% Y N intermediate affinity
  13. 17. PLS vs Haim-Munk Syndrome PLS HMS Cathepsin C gene mutation 2126C  T substitution 2127A  G substitution Palmoplantar keratosis Y Y Progressive periodontal disease Y (more severe) Y Arachnodactyly N Y acroosteolysis N Y <ul><ul><li>Abnormal changes of the nails </li></ul></ul>N Y <ul><ul><li>A claw-like deformity of the hands </li></ul></ul>N Y
  14. 18. Haim-Munk Syndrome
  15. 19. PLS vs Non-Syndromic Prepubertal Periodontitis PLS NS-PPP Cathepsin C gene mutation 2126C  T substitution 1040A  G substitution Palmoplantar keratosis Y N Progressive periodontal disease Y Y Teeth effected Generalized Generalized or Localized Patterns of familial transmission AR AD and AR
  16. 20. PLS vs LJP PLS LJP CTSC gene defect Y N A. a. Y Y Reduced chemotaxis Y Y PMN defect Y Y Teeth effected Generalized Localized
  17. 22. Hyperkeratosis of the palms of the hands and soles of the feet
  18. 23. Dermatologic Treatment <ul><li>A multidisciplinary approach is important for the care of patients with PLS, skin manifestations are usually treated with emollients </li></ul><ul><li>Salicylic acid and urea may be added to enhance their effects </li></ul><ul><li>Oral retinoids including acitretin, etretinate, and isotretinoin are used in treatment of both the keratoderma and periodontitis associated with PLS </li></ul>
  19. 24. Aggressive Periodontits in PLS
  20. 25. Periodontal Treatment
  21. 26. Periodontal Treatment <ul><li>Early treatment and compliance with the prevention program are the major determinants for preserving permanent teeth in young PLS patients </li></ul><ul><li>By extracting all primary teeth and eradicating periodontal pathogens the patients adult teeth can erupt into a safe environment </li></ul>
  22. 27. Pyogenic Liver Abscess in PLS
  23. 28. References <ul><li>Ullbro C, Brown A, Twetman S. Preventive Periodontal Regimen in Papillon-Lefèvre Syndrome. Pediatric Dentistry 27:3, pages 226-231, 2005. </li></ul><ul><li>Yang, H. W., Asikainen, S., Dogan, B., Suda, R., Lai, C. H. Relationship of Actinobacillus actinomycetemcomitans serotype b to aggressive periodontitis: frequency in pure cultured isolates. Journal of Periodontology, Taichung, Taiwan. www.pubmedcentral.nih.gov/articlerender.fcgi?artid=88070 </li></ul><ul><li>Burne R, Lamont R, Lantz M, LeBlanc D. Oral Microbiology and Immunology. ASM Press. Washington, DC. 2006. </li></ul><ul><li>Hart TC, Shapira L. Papillon-Lefèvre syndrome. Periodontol 2000. 1994 Oct;6:88-100. </li></ul><ul><li>Gorlin RJ, Sedano H, Anderson VE. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. J Pediatr 1964;65:895-908. </li></ul><ul><li>Rüdiger S, Petersika G, Fleming F. Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefevre syndrome. A report of 4 cases. J Clin Periodontol 1999;26:847-54. </li></ul><ul><li>Cury VF, Costa JE, Gomez RS, Boson WL, Loures CG, De ML. A Novel Mutation of the Cathepsin C Gene in Papillon-Lefevre syndrome. J Periodontol 2002;73:307-12. </li></ul><ul><li>Lundgren, T., Parhar, R.S., Renvert, S., Tatakis, D.N. (2005). Impaired Cytotoxicity in Papillon-Lefevre Syndrome. JDR 84: 414-417 </li></ul><ul><li>Moore SW, Millar AJW, Cywes S. Conservative initial treatment for liver abscesses in children. Br J Surg.1994; 81 :872 –874 </li></ul><ul><li>Noack, B., Gorgens, H., Hoffmann, Th., Fanghanel, J., Kocher, Th., Eickholz, P., Schackert, H.K. (2004). Novel Mutations in the Cathepsin C Gene in Patients with Pre-pubertal Aggressive Periodontitis and Papillon-Lefevre Syndrome. JDR 83: 368-370 </li></ul>

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