Cytokines in Papillon-Lefèvre Syndrome - Full Text View

Purpose

Papillon-Lefèvre syndrome (PLS) is characterised by aggressively progressive periodontitis combined with palmo-plantar hyperkeratosis. It is caused by "loss of function" mutations in the cathepsin C gene. The hypothesis behind this study is that PLS patients' PMNs produce more proinflammatory cytokines to compensate for their reduced capacity to neutralize leukotoxin and to eliminate Aggregatibacter actinomycetemcomitans. Production of more interleukin (IL)-8 would result in the attraction of more PMNs. Thus, the aim of this study was to evaluate the cytokine profile in PLS patients' blood cultures.

Condition
Papillon-Lefevre Disease

Study Type:	Observational
Study Design:	Observational Model: Case Control Time Perspective: Cross-Sectional
Official Title:	Observational Study on Cytokine Production by Leukocytes of Papillon-Lefèvre Syndrome Patients and Healthy Probands in Whole Blood Cultures

Resource links provided by NLM:

Genetics Home Reference related topics: Bart-Pumphrey syndrome focal palmoplantar keratoderma palmoplantar keratoderma with deafness Vohwinkel syndrome

U.S. FDA Resources

Further study details as provided by Goethe University:

Enrollment:	17
Study Start Date:	July 2006
Study Completion Date:	December 2009
Primary Completion Date:	January 2007 (Final data collection date for primary outcome measure)

Groups/Cohorts
PLS patients Eight PLS patients (one female) from 6 families. For all patients A.actinomycetemcomitans had been detected from subgingival plaque. All adult patients have reported premature tooth loss of deciduous teeth caused by severe periodontitis. 1 patient was treated successfully and has retained 26 permanent teeth up to now. 2 patients were edentulous or had left only very few remaining permanent teeth at the time point of examination.
Healthy controls Healthy donors had abstained from taking drugs for two weeks prior to the study. Due to wide spread use of oral contraceptives only male probands were chosen.

Groups/Cohorts

PLS patients

Eight PLS patients (one female) from 6 families. For all patients A.actinomycetemcomitans had been detected from subgingival plaque. All adult patients have reported premature tooth loss of deciduous teeth caused by severe periodontitis. 1 patient was treated successfully and has retained 26 permanent teeth up to now. 2 patients were edentulous or had left only very few remaining permanent teeth at the time point of examination.

Healthy controls

Healthy donors had abstained from taking drugs for two weeks prior to the study. Due to wide spread use of oral contraceptives only male probands were chosen.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

5 patients with established diagnose of PLS are under periodontal treatment at the Department of Periodontology, Center for Dental, Oral, and Maxillofacial Medicine (Carolinum) of the JWG-University Frankfurt am Main. Antiinfective therapy with adjunctive antibiotics has been rendered to all of them and they are under regular and frequent supportive therapy. The Department of Periodontology has contact to additional 5 PLS patients that are edentulous or under periodontal therapy elsewhere.

Criteria

Inclusion Criteria:

Diagnose of PLS

Exclusion Criteria:

No written informed consent

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01116934

Locations

Germany
Department of Periodontology, Center for Dental, Oral, and Maxillofacial Medicine (Carolinum), JWG-University
Frankfurt/Main, Germany, 60596

Sponsors and Collaborators

Goethe University

Investigators

Study Chair:

Peter Eickholz, Prof. Dr.

JWG-University

More Information

Publications:

Eickholz P, Kugel B, Pohl S, Näher H, Staehle HJ. Combined mechanical and antibiotic periodontal therapy in a case of Papillon-Lefèvre syndrome. J Periodontol. 2001 Apr;72(4):542-9.

Noack B, Görgens H, Hoffmann T, Fanghänel J, Kocher T, Eickholz P, Schackert HK. Novel mutations in the cathepsin C gene in patients with pre-pubertal aggressive periodontitis and Papillon-Lefèvre syndrome. J Dent Res. 2004 May;83(5):368-70.

Lux CJ, Kugel B, Komposch G, Pohl S, Eickholz P. Orthodontic treatment in a patient with Papillon-Lefèvre syndrome. J Periodontol. 2005 Apr;76(4):642-50.

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 Nov;33(11):829-36. Epub 2006 Sep 13.

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 Periodontol. 2008 Apr;35(4):311-6. Epub 2008 Feb 20.

ClinicalTrials.gov Identifier:	NCT01116934 History of Changes
Other Study ID Numbers:	PLS-Cytokines
Study First Received:	May 3, 2010
Last Updated:	May 3, 2010
Health Authority:	Germany: Institutional Review Board

Keywords provided by Goethe University:

blood culture, IL-1β, IL-6, IL-8, IP-10, interferon-gamma

Additional relevant MeSH terms:

Papillon-Lefevre Disease
Keratoderma, Palmoplantar
Skin Diseases, Genetic

Genetic Diseases, Inborn
Keratosis
Skin Diseases

ClinicalTrials.gov processed this record on June 18, 2013