Trial record 2 of 2 for:    "Vohwinkel syndrome" OR "Keratoderma, Palmoplantar"

Cytokines in Papillon-Lefèvre Syndrome

This study has been completed.
Information provided by:
Goethe University Identifier:
First received: May 3, 2010
Last updated: NA
Last verified: May 2010
History: No changes posted
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.

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:

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)
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.


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.

Inclusion Criteria:

  • Diagnose of PLS

Exclusion Criteria:

  • No written informed consent
  Contacts and Locations
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Please refer to this study by its identifier: NCT01116934

Department of Periodontology, Center for Dental, Oral, and Maxillofacial Medicine (Carolinum), JWG-University
Frankfurt/Main, Germany, 60596
Sponsors and Collaborators
Goethe University
Study Chair: Peter Eickholz, Prof. Dr. JWG-University
  More Information

Publications: 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
Genetic Diseases, Inborn
Keratoderma, Palmoplantar
Skin Diseases
Skin Diseases, Genetic processed this record on February 09, 2016