Fogorvosi szemle, 2014 (107. évfolyam, 1-4. szám)

2014-09-01 / 3. szám

FOGORVOSI SZEMLE ■ 107. évf. 3. sz. 2014. 92 42. Nickles K, Schacher B, Ratka-Krüger P, Krebs M, Eickholz P: Long-term results after treatment of periodontitis in patients with Papillon-Lefèvre syndrome: success and failure. J Clin Periodontol. 2013; 40: 789-798. 43. Noack B, Görgens H, Schacher B, Puklo M, Eickholz P, Hoffmann T, Schackert HK: Functional cathepsin C mutations cause different Papillon-Lefèvre syndrome phenotypes. J Clin Periodontol2008; 35: 311-316. 44. Papillon PH, Lefèvre P: Deuxcas de kératodermiepalmaire et plantairesymétriquefamiliale (maladie de Meleda) chez le frère et la soeur. Coexistence dans les deuxcasd’altérations dentaires graves. Bulletin de la Société française de dermatologie et de vé­­néorologie, Paris 1924. 31:82-87. 45. Petit MD, van Steenbergen TJ, Schölte LM, van der Velden U, de Graaff J: Epidemiology and transmission of Porphyromonas gin­givalis and Actinobacillus actinomycetemcomitans among chil­dren and their family members. A report of 4 surveys. J Clin Peri­odontol. 1993; 20: 641-650. 46. Pham CT, Ivanovich JL, Raptis SZ, Zehnbauer B, Lev TJ: Papillon- Lefèvre syndrome: Correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans. J Immunol 2004; 175:7277-7281. 47. Preus H, Gjermo P.: Clinical management of prepubertal perio­dontitis in 2 siblings with Papillon-Lefèvre syndrome. J Clin Peri­odontol. 1987;14: 156-160. 48. Preus HR: Treatment of rapidly destructive periodontitis in Pap­illon-Lefèvre syndrome. Laboratory and clinical observations. J Clin Periodontol. 1988; 15: 639-643. 49. Romero-Quintana JG, Fri'as-Castro LO, Arámbula-Meraz E, Agu­­ilar-Medina M, Duenas-Arias JE, Melchor-Soto JD, Romero-Nav­­arro JG, Ramos-Payán R: Identification of novel mutation in cath­epsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients. BMC Med Genet. 2013; 14: 7. 50. Rüdiger S, Petersilka G, Flemmig TF: Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefèvre syndrome. A report of 4 cases. J Clin Periodontol. 1999; 26 :847-854. 51. Schacher B, Baron F, Ludwig B, Valesky E, Noack B, Eickholz P. Periodontal therapy in siblings with Papillon-Lefèvre syndrome and tinea capitis: a report of two cases. J Clin Periodontol. 2006; 33: 829-836. 52. Senel FC, Altintas NY, Bagis B, Cankaya M, Pampu AA, Satiro­­glu I, Senel AC: A 3-year follow-up of the rehabilitation of Papil­lon-Lefèvre syndrome by dental implants. J Oral Maxillofac Surg. 2012; 70: 163-167. 53. Tinanoff N, Tempro P, Maderazo EG: Dental treatment of Pap­illon-Lefèvre syndrome: 15-year follow-up. J Clin Periodontol. 1995; 22: 609-612. 54. Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999; 23: 421-424. 55. Toygar HU, Kircelli C, Firat E, Guzeldemir E: Combined therapy in a patient with Papillon-Lefèvre syndrome: a 13-year follow-up. J Periodontol 2007; 78: 1819-1824. 56. Ullbro C, Crossner CG, Lundgren T, Stälblad PA, Renvert S: Osseointegrated implants in a patient with Papillon-Lefèvre syn­drome. A 4 1/2-year follow up. J Clin Periodontol. 2000; 27: 951- 954. 57. Van Winkelhoff AJ, Boutaga K.: Transmission of periodontal bac­teria and models of infection. J Clin Periodontol. 2005; 32. Suppl 6:16-27. 58. Wiebe CB, Häkkinen L, Putnins EE, Walsh P, Larjava HS: Suc­cessful periodontal maintenance of a case with Papillon-Lefèvre syndrome: 12-year follow-up and review of the literature. J Peri­odontol. 2001; 72: 824-830. 59. Woo I, Brunner DP, Yamashita DD, Le BT.: Dental implants in a young patient with Papillon-Lefevre syndrome: a case report. Implant Dent. 2003;12: 140-144. Vályi P, Farkas K, Tripolszki K, Sulák A, Széll M, Nagy N, Nagy K European recurrent missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive peri­odontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syn­drome has been available for one or two years in Hungary, their mutation screenings were just recently performed. We have identified a homozygous missense mutation on the cathepsin C gene, which is an already published mutation and was originally reported from Germany. Our investigations would like to draw attention to a rare disease, Papillon-Lefèvre syndrome, in which first symptom can be the aggressive periodontitis, and in which genetic testing and for helping child­bearing and family planning is now available. Key words: Papillon-Lefèvre syndrome, cathepsin C gene, aggressive periodontitis, palmoplantar keratoderma, mutation

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