Backgroung/Aim: Papillon Lefévre syndrome is a rare autosomal recessive genodermatosis. The characteristic findings of the disease are early loss of primary and permanent teeth and palmoplantar keratoderma. Notwithstanding that many etiologic factors like genetic mutations, bacterial agents, immunologic changes have been identified, the pathogenesis has not been fully understood. Although dentists play an important role in the diagnosis and treatment of Papillon Lefévre syndrome, it is appropriate to treat the disease with a multidisciplinary approach.
Case Report: In this case report, the clinical, radiological and genetic examination of the patient with Papillon Lefévre syndrome who has a homozygous mutation in the CTSC gene will be presented.
Conclusions: Dentists should have knowledge about treatment management of these patients. Teeth can be preserved longer with early diagnosis and appropriate treatment of the disease.
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1. Papillon MM, Lefevre P. Twocases of symmetrically familial palmar and plantar hyperkeratosis (Meledadisease) within brother and sister combined with severe dental alterations in both cases (in French). Bull Soc Fr Dermatol Syph, 1924;31:82-84
2. Wani AA, Devkar N, Patole MS, Shouche YS. Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome. J Periodontol, 2006;77:233-237.
3. Hattab FN, Rawashdeh MA, Yassin OM, al-Momani AS, al-Ubosi M. Papillon-Lefèvre syndrome: a review of the literature and report of 4 cases. J Periodontol. 1995;66:413-420.
4. Sollecito TP, Sullivan KE, Pinto A, Stewart J, Korostoff J. Systemic conditions associated with periodontitis in childhood and adolescence. A review of diagnostic possibilities. Med Oral Patol Oral Cir Bucal, 2005;10:142-150.
9. Subramaniam P, Mathew S, Gupta K. Papillon Lefevre Syndrome: A Case Report. Indıan Soc Pedod Prev Dent J, 2008;26:171-174.
10. Baghdadi VS. Papillon-Lefévre syndrome: report of four cases. ASDC J Dent Child, 1982;49:147-150.
11. Fahmy MS. Papillon-Lefévre syndrome: Report of four case in two families with a strongtie of consanguinity. A clinical, radiographic, heamatological and genetic study. J Oral Med, 1987;42:263-268.
12. Dhanrajani PJ. Papillon-Léfevre syndrome: clinical presentation and a brief review. Oral Surg Oral Med Oral Pathol Radiol Endod, 2009;108:1-7
13. Zhang Y, Hart PS, Moretti AJ, Bouwsma OJ, Fisher EM, Dudlicek L et al. Biochemical and mutational analyses of cathepsin C gene (CTSC) in three North American families with Papillon Léfevre syndrome. Hum Mutat, 2002;20:75.
14. Dalgic B, Bukulmez A, Sari S. Eponym: Papillon-Léfevre syndrome. Eur J Pediatr, 2011;170:689-691.
15. Nagy N, Valyi P, Csoma Z, Sulak A, Tripolszki K, Farkas K et al. CTSC and Papillon–Lefevre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update. Mol. Genet. Genomic Med, 2014;2:217-228.
16. Hamon Y. Analysis of Urinary Cathepsin C for Diagnosis Papillon Lefevre Syndrome. Febs J, 2016;283:498-509.
17. Çağlı NA. Clinical, Genetic and biochemical findings in two siblings with Papillon Lefevre Syndrome. J Periodontol, 2005;76:2322-2329.
18. Tekin B. Papillon Lefevre syndrome: report of six patients and identification of novel mutation. Int J Dermetol, 2016;55:898-902.
19. Turk D, Janjic V, Stern I, Podobnik M, Lamba D, Dahl SW et al. Structure of human dipeptidylpeptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases. Embo J, 2001;20:6570-6582.
20. Schwartz LB. Tryptase, a mediator of human mastcells. J Allergy Clin Immunol, 1990;86:594-598.
21. Ryu OH, Choi SJ, Firatli E. Proteolysis of macrophage inflammatory protein-1 alpha isoforms LD78beta and LD78alfa by neutrophil-derived serine proteas. J Biol Chem, 2005;280:17415-17421.
22. Liu R, Cao C, Meng H, Tang Z. Leukocyte functions in 2 cases of Papillon-Lefèvre syndrome. J Clin Periodontol, 2000;27:69-73.
24. Ishikawa I, Umeda M, Laosrisin N. Clinical, bacteriological and immunological examinations and the treatment process of two Papillon Lefevre syndrome patients. J Periodontol, 1994;65:364-371.
25. Drahanjani P. Papillon Lefevre syndrome: clinical presentation and a brief review. Oral Surg Oral Med Oral Path Oral Radiol, 2009;108:1-7.
26. Kellum RE. Papillon-Lefèvre syndrome in four siblings treated with etretinate. A nine-year evaluation. Int J Dermatol, 1989;28:605-608.
27. Weibe C, Hakkinen L. Succesful periodontal maintenance of a case with Papillon-Lefevre syndrome: 12-Year follow-up and review of literature. J Periodontol, 2001;72:824-830.
28. Gelmetti C, Nazzaro V, Cerri D, Fracasso L. Long-termpreservation of permanent teeth in a patient with Papillon-Lefèvre syndrome treated with etretinate. J Pediatr Dermatol, 1989;6:222-225.
29. Lee MR, Wong LC, Fischer GO. Papillon-Lefèvre syndrome treated with acitretin. Australas J Dermatol, 2005;46:199-201.
30. Sarma N, Ghosh C, Kar S, Bazmi BA. Low-dose acitretin in Papillon-Lefèvre syndrome: treatment and 1-year follow-up. J Dermatol Ther, 2015;28:28-31.
31. Al Farraj, Al Dosari A. Oral rehabilitation of a case of Papillon-Lefevre syndrome with dental implants. Saudi Med J, 2013;34:424-427.
32. Senel FC, Altintas NY, Bagis B, Cankaya M, Pampu AA, Satiroglu I et al. A 3-year follow-up of the rehabilitation of Papillon-Lefèvre syndrome by dental implants. J Oral Maxillofac Surg, 2012;70:163-167.