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Late onset pepillon-syndrome (a cilinical report)

Year 2009, Volume: 15 Issue: 2, 44 - 48, 01.03.2009

Abstract

Papillon-Lefevre syndrome is a rare autosomal recessive disorder characterized by the association of palmoplantar hyperkeratosis and premature loss of both deciduous and permanent teeth. Although there were a number of studies with respect to classical PLS patients the number of studies on the late-onset PLS was limited. This paper reports the treatment planning of the mildly affected perıodontal component of a patient with late-onset Papillon-Lefevre syndrome and in DNA by investigating cytokine and MIF genotyping. Cytokine (IL-6, IL-10, IFN-g, TGF-Bl, TNFa) genotyping was performed by the PCR-SSP method. The TNFa (-238,-857) and MIF (-173) genotyping were determined by PCR-RFLP method. These results are the first detailed genetic study data concerning the Late-Onset Papillon-Lefevre Syndrome in literature. The IL-6, IL-10, TNFa and IFN-g polymorphisms were detected as high expression while TGF-Bl was detected as intermediate expression and GC genotype in the MIF (-173) gene.

References

  • l.Papillon MM, Lefe'vre P. 2 cases of symmetrically famillary palmar and plantar hyperceratosis (Meledas dideaşe) within brother and sister combined with severe dental alterations in both cases (in French). Soc Franc Dermat Syph. 1924;31:82-84
  • 2.Pratchyapruit WO, Kullavavanijaya P. Papillon-Lefevre syndrome: a case report. J Dermatol. 2002;29:329-335
  • 3.Wiebe CB, Hakkinen L, Putnins EE. Successful periodontal maintenance of a case with Papillon-Lefevre syndrome: 12-year follow-up and review of the literature. J Periodontol. 2001;72:824-830
  • 4.Posteraro ÂF: Papillon-Lefevre syndrome. J Ala Dent Assoc. 1992;76:16-25
  • 5.HartTC, Hart PS, Bowden DW, Michalec MD, Callisoh SA, Walker SJ, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome. J Med Genet. 1999;36:881-887
  • 6.Fıratlı E, Gürel N, Efeoğlu A, Badur S. Clinical and immunological findigs in 2 siblings with Papillon-Lefevre syndrome. 3 Periodontol. 1996;67:1210-1215
  • 7.Hart TC, Shapira L. Papillon-Lefevre syndrome. Periodontol 2000. 1994;6:88-100
  • 8.Kleinfelder JW, Topoll HH, Preus HR, Müller RF, Lange DE, Böcker W, et al. Microbiological and immunohistological findings in a patient with Papillon-Lefevre syndrome. J Clin Periodontol. 1996;23:1032-1038
  • 9.Lundgren T, Renvert S, Papapanou PN, Dahlen G. Subgingival microbial profile of Papillon-Lefevre patients assessed by DNA-probes. J Clin Periodontol. 1998;25;624-629
  • lO.Haneke E, Hornstein OP, Lex C. Increased susceptibility to infections in Papillo-Lefevre syndrome. Dermatologica. 1975; 150:283-286
  • ll.Willett LM, Gabriel SA, Kozma C, Bottomley WK. Papillon-Lefevre: report of a case. J Oral Med. 1985;40:43-45
  • 12.Brown RS, Hays GL, Flaitz CM, O'Neill PA, Abramovitch K, White RR, et al. A possible late onset variation of Papillon-Lefevre syndrome: report of 3 cases. J Periodontol. 1993;64:379-386
  • 13.Braun D, Spycher MA, Disch R. Keratosis palmoplantaris diffusa mit Periodontopathie (Papillon-Lefevre Syndrom): Fallbericht und Differentialdiagnostic. Z Hautkr. 1998;73:388-392
  • 14.Pilger U, Hennies HC, Truschnegg A, Aberer E. Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene. Am Acad Dermatol. 2003;49:240-243
  • 15.Miller SA , Dykes DD , Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215
  • 16.Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci. USA. 1997;94:3195-3199
  • 17.Pravica V, Asderakis A, Perry C. In-vitro production of IFN-g correlates with CA repeat polymorphisms in the human IFN-g gene. Eur J Immunogenet. 1999;26:l-3
  • 18.Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, et al. The effect of novel polymorphism in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic onset juvenile chronic arthritis. J Clin Invest. 1988;102: 1369-1376
  • 19.Nitta H, Kato H, Umeda M, Kuwata S, Ishikawa I. Papillon -Lefe'vre syndrome: analysis of HLA antigens. Oral Dis. 2000;6;278-281
  • 2O.Lundgren T, Renvert S. Periodontol,treatment of patients with Papillon -Lefe'vre syndrome: a 3-year follow-up. J Clin Periodontol. 2004;31:933-938
  • 21.Fıratlı E, Tuzun B, Efeoğlu A. Papillon-Lefevre syndrome
  • Analysis of neutrophil chemotaxis. J Periodontol
  • 1996;67:617-620. 22.Umeda M, Zhang YJ, Koşeki T, Ishikawa I. Clinical, bacteriological and immunological examination and treatment of two Papillon-Lefe'vre syndrome patients. J Oral Pathol. 1990;57.430-440
  • 23.Soskolne WA, Stabholz A, van Dyke TE, Hart TC, Meyle 1 et al. Partial expression of the Papillon-Lefe'vre syndrome in 2 unrelated families. J Clin Periodontol. 1996;23:764-769
  • 24.Celenligil H, Kansu E, Ruacan S, Eratalay K. Characterization of peripheral bloo and gingival lymphocytes with monoclonal antibodies. J Periodontol. 1992;19:392-397
  • 25.Fıratlı E, Gürel N, Efeoğlu A. Papillon-Lefe'vre syndrome. Analysis of peripheral blood lymphocytes subsets. J Clin Periodontol. 1996;23:823-825
  • 26.Lyberg T. Immunological and metabolical studies in two siblings with Papillon-Lefe* vre syndrome. J Periodontol Res. 1982;17:563-568
  • 27.Jung J, Carranza FA, Newman MG. Scanning electron-microscopy of plaque in Papillon-Lefe'vre syndrome. J Periodontol. 1981;52:442-446
  • 28.Newman M, Angel I, Karge H. Bacterial studies of the Papillon-LefeVe syndrome. J Dent Res. 1977;56:545-546
  • 29.Eronat N, Ucar F, Kilnic G. Papillon-Lefe' vre syndrome: treatment of 2 cases with a clinical and microbiological investigation. J Clin Periodontol. 1993; 17:99-104
  • 30.Velazco CH, Coelho C, Salazar F, Contreras A, Slots J, Pacheco D, et al. Microbiological features of Papillon-Lefe'vre syndrome periodontitis. J Clin Periodontol. 1999;26:622-627
  • 31.Baer PN, McDonald RE. Suggested mode of periodontal therapy for patients with Papillon-Lefexvre syndrome. Periodontol Case Rep. 1981; 1:10-14
  • 32.Tinanoff N, Tempro P, Maderazo EG. Dental treatment of Papillon-Lefe'vre syndrome: 15- year follow-up. J Clin Periodontol. 1995;22:62-86
  • 33.De Vree H, Steenackers K, De Boever JA. Periodontal treatment of rapid progressive periodontitis in 2 siblings with papilion-lefevre syndrome: 15- year follow up. J Clin Periodontol. 2000;27:354-360
  • 34.Rüdiger S, Petersilka G, Flemming TF. Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefe'vre syndrome. A report of 4 casese. J Clin Periodontol. 1999;26:847-854
  • 35.Lundgren T, Crossner CG, Twetman S. Systemic retinoid meication and periodontal health in patients with Papillon-Lefe'vre syndrome. J Clin Periodontol. 1996;23:176-179
  • 36.Nazarro V, Blanchet-Bardon C, Mimoz C. Papillon-Lefexvre syndrome. Dermatol. 1998;40:533-539
  • 37.Gelmetti C, Nazzaro V, Cerri D. Long-term preservation of permanent teeth in a patient with Papillon-Lefexvre syndrome treatment with etretinate. Pediatr Dermatol. 1989;6:222-225

Late onset papillon-lefevre sendromu olgusu

Year 2009, Volume: 15 Issue: 2, 44 - 48, 01.03.2009

Abstract

Papıllon- Lefevre Sendromu (PLS), otozomal resesıf olarak aktarılan el ve ayak tabanında hıperkeratotık kalınlaşmalara ve perıodontal hastalığa bağlı daimi ve sut dişi kayıplarının görüldüğü kalıtsal bir hastalıktır. Klasik PLS hastaları ile ilgili çok sayıda araştırma olmasına ragmen PLS nın gecikmiş tipiyle ilgili sınırlı sayıda araştırma mevcuttur. Bu vaka raporunda, gecikmiş tip PLS'ye bağlı olarak orta derecede etkilenmiş periodontal dokuların değerlendirilmesi, sitokın ve MIF genotipının araştırılması amaçlanmıştır. Sitokın (IL-6, İL-10, IFN-g TGF-61, TNF-a) genotıpleme için diziye spesifik PCR yöntemi ile yapıldı. TNFa (-238,-857) ve MIF genine ait -173 polımorfızmine PCR-RFLP yöntemi ile bakıldı. Bu sonuçlar, literatürde Late Onset Papillon-Lefevre Sendromu ile ilgili ilk ayrıntılı çalışma verileridir. IL-6, IL-10, IFN-g TNF-a'nın yüksek ekspresyonu, TGF-Bl orta ekspresyonu olduğu ve MIFgenınde ise GC genotipının bulunduğu belirlendi.

References

  • l.Papillon MM, Lefe'vre P. 2 cases of symmetrically famillary palmar and plantar hyperceratosis (Meledas dideaşe) within brother and sister combined with severe dental alterations in both cases (in French). Soc Franc Dermat Syph. 1924;31:82-84
  • 2.Pratchyapruit WO, Kullavavanijaya P. Papillon-Lefevre syndrome: a case report. J Dermatol. 2002;29:329-335
  • 3.Wiebe CB, Hakkinen L, Putnins EE. Successful periodontal maintenance of a case with Papillon-Lefevre syndrome: 12-year follow-up and review of the literature. J Periodontol. 2001;72:824-830
  • 4.Posteraro ÂF: Papillon-Lefevre syndrome. J Ala Dent Assoc. 1992;76:16-25
  • 5.HartTC, Hart PS, Bowden DW, Michalec MD, Callisoh SA, Walker SJ, et al. Mutations of the cathepsin C gene are responsible for Papillon-Lefevre syndrome. J Med Genet. 1999;36:881-887
  • 6.Fıratlı E, Gürel N, Efeoğlu A, Badur S. Clinical and immunological findigs in 2 siblings with Papillon-Lefevre syndrome. 3 Periodontol. 1996;67:1210-1215
  • 7.Hart TC, Shapira L. Papillon-Lefevre syndrome. Periodontol 2000. 1994;6:88-100
  • 8.Kleinfelder JW, Topoll HH, Preus HR, Müller RF, Lange DE, Böcker W, et al. Microbiological and immunohistological findings in a patient with Papillon-Lefevre syndrome. J Clin Periodontol. 1996;23:1032-1038
  • 9.Lundgren T, Renvert S, Papapanou PN, Dahlen G. Subgingival microbial profile of Papillon-Lefevre patients assessed by DNA-probes. J Clin Periodontol. 1998;25;624-629
  • lO.Haneke E, Hornstein OP, Lex C. Increased susceptibility to infections in Papillo-Lefevre syndrome. Dermatologica. 1975; 150:283-286
  • ll.Willett LM, Gabriel SA, Kozma C, Bottomley WK. Papillon-Lefevre: report of a case. J Oral Med. 1985;40:43-45
  • 12.Brown RS, Hays GL, Flaitz CM, O'Neill PA, Abramovitch K, White RR, et al. A possible late onset variation of Papillon-Lefevre syndrome: report of 3 cases. J Periodontol. 1993;64:379-386
  • 13.Braun D, Spycher MA, Disch R. Keratosis palmoplantaris diffusa mit Periodontopathie (Papillon-Lefevre Syndrom): Fallbericht und Differentialdiagnostic. Z Hautkr. 1998;73:388-392
  • 14.Pilger U, Hennies HC, Truschnegg A, Aberer E. Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene. Am Acad Dermatol. 2003;49:240-243
  • 15.Miller SA , Dykes DD , Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215
  • 16.Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci. USA. 1997;94:3195-3199
  • 17.Pravica V, Asderakis A, Perry C. In-vitro production of IFN-g correlates with CA repeat polymorphisms in the human IFN-g gene. Eur J Immunogenet. 1999;26:l-3
  • 18.Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, et al. The effect of novel polymorphism in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic onset juvenile chronic arthritis. J Clin Invest. 1988;102: 1369-1376
  • 19.Nitta H, Kato H, Umeda M, Kuwata S, Ishikawa I. Papillon -Lefe'vre syndrome: analysis of HLA antigens. Oral Dis. 2000;6;278-281
  • 2O.Lundgren T, Renvert S. Periodontol,treatment of patients with Papillon -Lefe'vre syndrome: a 3-year follow-up. J Clin Periodontol. 2004;31:933-938
  • 21.Fıratlı E, Tuzun B, Efeoğlu A. Papillon-Lefevre syndrome
  • Analysis of neutrophil chemotaxis. J Periodontol
  • 1996;67:617-620. 22.Umeda M, Zhang YJ, Koşeki T, Ishikawa I. Clinical, bacteriological and immunological examination and treatment of two Papillon-Lefe'vre syndrome patients. J Oral Pathol. 1990;57.430-440
  • 23.Soskolne WA, Stabholz A, van Dyke TE, Hart TC, Meyle 1 et al. Partial expression of the Papillon-Lefe'vre syndrome in 2 unrelated families. J Clin Periodontol. 1996;23:764-769
  • 24.Celenligil H, Kansu E, Ruacan S, Eratalay K. Characterization of peripheral bloo and gingival lymphocytes with monoclonal antibodies. J Periodontol. 1992;19:392-397
  • 25.Fıratlı E, Gürel N, Efeoğlu A. Papillon-Lefe'vre syndrome. Analysis of peripheral blood lymphocytes subsets. J Clin Periodontol. 1996;23:823-825
  • 26.Lyberg T. Immunological and metabolical studies in two siblings with Papillon-Lefe* vre syndrome. J Periodontol Res. 1982;17:563-568
  • 27.Jung J, Carranza FA, Newman MG. Scanning electron-microscopy of plaque in Papillon-Lefe'vre syndrome. J Periodontol. 1981;52:442-446
  • 28.Newman M, Angel I, Karge H. Bacterial studies of the Papillon-LefeVe syndrome. J Dent Res. 1977;56:545-546
  • 29.Eronat N, Ucar F, Kilnic G. Papillon-Lefe' vre syndrome: treatment of 2 cases with a clinical and microbiological investigation. J Clin Periodontol. 1993; 17:99-104
  • 30.Velazco CH, Coelho C, Salazar F, Contreras A, Slots J, Pacheco D, et al. Microbiological features of Papillon-Lefe'vre syndrome periodontitis. J Clin Periodontol. 1999;26:622-627
  • 31.Baer PN, McDonald RE. Suggested mode of periodontal therapy for patients with Papillon-Lefexvre syndrome. Periodontol Case Rep. 1981; 1:10-14
  • 32.Tinanoff N, Tempro P, Maderazo EG. Dental treatment of Papillon-Lefe'vre syndrome: 15- year follow-up. J Clin Periodontol. 1995;22:62-86
  • 33.De Vree H, Steenackers K, De Boever JA. Periodontal treatment of rapid progressive periodontitis in 2 siblings with papilion-lefevre syndrome: 15- year follow up. J Clin Periodontol. 2000;27:354-360
  • 34.Rüdiger S, Petersilka G, Flemming TF. Combined systemic and local antimicrobial therapy of periodontal disease in Papillon-Lefe'vre syndrome. A report of 4 casese. J Clin Periodontol. 1999;26:847-854
  • 35.Lundgren T, Crossner CG, Twetman S. Systemic retinoid meication and periodontal health in patients with Papillon-Lefe'vre syndrome. J Clin Periodontol. 1996;23:176-179
  • 36.Nazarro V, Blanchet-Bardon C, Mimoz C. Papillon-Lefexvre syndrome. Dermatol. 1998;40:533-539
  • 37.Gelmetti C, Nazzaro V, Cerri D. Long-term preservation of permanent teeth in a patient with Papillon-Lefexvre syndrome treatment with etretinate. Pediatr Dermatol. 1989;6:222-225
There are 38 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Kamile Erciyas This is me

Sacide Pehlivan This is me

Serhat İnalöz This is me

Ali Fuat Erciyas This is me

Tuğçe Sever This is me

Publication Date March 1, 2009
Published in Issue Year 2009 Volume: 15 Issue: 2

Cite

APA Erciyas, K., Pehlivan, S., İnalöz, S., Erciyas, A. F., et al. (2009). Late onset papillon-lefevre sendromu olgusu. Gaziantep Medical Journal, 15(2), 44-48.
AMA Erciyas K, Pehlivan S, İnalöz S, Erciyas AF, Sever T. Late onset papillon-lefevre sendromu olgusu. Gaziantep Medical Journal. March 2009;15(2):44-48.
Chicago Erciyas, Kamile, Sacide Pehlivan, Serhat İnalöz, Ali Fuat Erciyas, and Tuğçe Sever. “Late Onset Papillon-Lefevre Sendromu Olgusu”. Gaziantep Medical Journal 15, no. 2 (March 2009): 44-48.
EndNote Erciyas K, Pehlivan S, İnalöz S, Erciyas AF, Sever T (March 1, 2009) Late onset papillon-lefevre sendromu olgusu. Gaziantep Medical Journal 15 2 44–48.
IEEE K. Erciyas, S. Pehlivan, S. İnalöz, A. F. Erciyas, and T. Sever, “Late onset papillon-lefevre sendromu olgusu”, Gaziantep Medical Journal, vol. 15, no. 2, pp. 44–48, 2009.
ISNAD Erciyas, Kamile et al. “Late Onset Papillon-Lefevre Sendromu Olgusu”. Gaziantep Medical Journal 15/2 (March 2009), 44-48.
JAMA Erciyas K, Pehlivan S, İnalöz S, Erciyas AF, Sever T. Late onset papillon-lefevre sendromu olgusu. Gaziantep Medical Journal. 2009;15:44–48.
MLA Erciyas, Kamile et al. “Late Onset Papillon-Lefevre Sendromu Olgusu”. Gaziantep Medical Journal, vol. 15, no. 2, 2009, pp. 44-48.
Vancouver Erciyas K, Pehlivan S, İnalöz S, Erciyas AF, Sever T. Late onset papillon-lefevre sendromu olgusu. Gaziantep Medical Journal. 2009;15(2):44-8.