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Studies on clinical expression, genotype, and gingival crevicular fluid characteristics in young patients with Papillon-Lefèvre syndrome
Umeå University, Faculty of Medicine, Odontology.
2004 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Papillon-Lefèvre syndrome (PLS) is an autosomal recessive condition with palmoplantar hyperkeratosis and aggressive periodontitis as cardinal features. The disorder is linked to mutations of the gene for cathepsin C, a lysosomal protease essential in activation of serine proteases in immune and inflammatory cells. The genetic background of the disorder has been identified, but its relation to phenotypic expression is obscure.

The aims of the project were to explore phenotypic expression in young patients with PLS, and to investigate any correlation between clinical expression and identified genotype. Additionally, biochemical properties of gingival crevicular fluid (GCF) were investigated, and the result of an oral treatment protocol based on plaque control was evaluated.

Major results and conclusions from the studies were:

The severity of the skin lesions showed no correlation to patient’s age or level of periodontal disease, supporting the concept that the two major components of PLS are independent of each other.

Genotyping revealed two cardinal genotypes, but no correlation between the identified genotypes and expression of phenotypes could be found, suggesting that it is the interaction with environmental factors and/or other genes that is important in shaping the phenotype.

Analyses of gingival crevicular fluid (GCF) from patients with PLS did not show any clear-cut pathognominic expressions with regard to content of cytokines, metalloproteinases or inhibitor of metallproteinase 1.

The level of plasminogen activator inhibitor in GCF was significantly higher in PLS patients than in controls, indicating atypical activity of the plasminogen activating system with, possibly, disturbed epithelial function. This may affect the epithelial barrier function and its role in the innate defence system.

Evaluation of a PLS oral treatment protocol showed treatment from an early age and compliance to the program to be important in preserving permanent teeth in PLS.

Place, publisher, year, edition, pages
2004. , 51 p.
Series
Umeå University odontological dissertations, ISSN 0345-7532 ; 89
Research subject
Odontology
Identifiers
URN: urn:nbn:se:umu:diva-384ISBN: 91-7191-882-5 (print)OAI: oai:DiVA.org:umu-384DiVA: diva2:143343
Public defence
2004-12-17, Sal B, Tandläkarhögskolan, 9 tr, Norrlands Universitetssjukhus, Umeå, 13:00
Opponent
Available from: 2004-12-09 Created: 2004-12-09Bibliographically approved
List of papers
1. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome
Open this publication in new window or tab >>Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome
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2003 (English)In: The Journal of American Academy of Dermatology, ISSN 0190-9622, E-ISSN 1097-6787, Vol. 48, no 3, 345-351 p.Article in journal (Refereed) Published
Abstract [en]

Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontal infection. The aims of this study were to rank the severity of dermatologic and oral affections using a semiquantitative scoring system, and to evaluate whether the severity of the dermatologic changes were correlated to age, degree of periodontal infection, or both. The study included 47 patients with Papillon-Lefèvre syndrome. With no exception both skin and oral changes developed early in life. The dermatologic involvement showed no correlation with age, whereas the periodontal infection was significantly worse in young children with deciduous teeth. A strong correlation was found between the condition of feet and hands, although the scores for the feet were significantly higher. No significant correlation could be demonstrated between the level of periodontal infection and severity of skin affections, supporting the concept that these 2 major components of Papillon-Lefèvre syndrome are unrelated to each other.

Identifiers
urn:nbn:se:umu:diva-4309 (URN)10.1067/mjd.2003.197 (DOI)
Available from: 2004-12-09 Created: 2004-12-09 Last updated: 2017-12-14Bibliographically approved
2. Genotype and Phenotypic Expression in Young Patients with Papillon-Lefèvre Syndrome
Open this publication in new window or tab >>Genotype and Phenotypic Expression in Young Patients with Papillon-Lefèvre Syndrome
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Article in journal (Refereed) Submitted
Identifiers
urn:nbn:se:umu:diva-4310 (URN)
Available from: 2004-12-09 Created: 2004-12-09Bibliographically approved
3. Cytokines, matrix metalloproteinases and tissue inhibitor of metalloproteinases-1 in gingival crevicular fluid from patients with Papillon-Lefèvre syndrome
Open this publication in new window or tab >>Cytokines, matrix metalloproteinases and tissue inhibitor of metalloproteinases-1 in gingival crevicular fluid from patients with Papillon-Lefèvre syndrome
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2004 (English)In: Acta Odontologica Scandinavica, ISSN 0001-6357, E-ISSN 1502-3850, Vol. 62, no 2, 70-74 p.Article in journal (Refereed) Published
Abstract [en]

The aim of the present study was to compare concentrations of cytokines, matrix metalloproteinases (MMPs) and a metalloproteinase inhibitor (TIMP-1) in gingival crevicular fluids (GCF) from sites with gingival inflammation in 28 young patients with Papillon-Lefevre syndrome (PLS), and in age- and gender-matched controls. Each group consisted of 17 females and 11 males with a mean age of 11.0 years (range 4-22 years). In both groups, anterior upper sites with a clinical diagnosis of gingival inflammation and with pockets < or = 3 mm were selected for sampling of GCF, which was carried out with filter disks inserted into the gingival crevice until saturated. The concentrations of cytokines (IL-1alpha, IL-1beta, TNF-alpha, and IL-8), matrix metalloproteinases (MMP-1, MMP-3, MMP-8, and MMP-9), and their tissue inhibitor (TIMP-1) were analysed using commercial ELISA kits. Significantly higher levels of IL-1beta (P < 0.001) and MMP-8 (P < 0.05) were disclosed among the PLS patients compared with their controls, while the opposite was found for IL-8 (P < 0.05) and MMP-1 (P < 0.001). The individual variations were considerable in both groups. When comparing the expression of cytokines, MMPs, and TIMP-1 in PLS patients with clinically active and non-active periodontitis, the non-active PLS patients showed significantly higher values of IL-1beta than the patients with active periodontal disease (ANOVA, P < 0.01). In conclusion, this study was unable to demonstrate a clear-cut pathognomonic expression of cytokines or MMPs in patients with PLS, but further studies on cytokine and MMP output are warranted.

Keyword
Cytokines, matrix metalloproteinases, Papillon-Lefèvre syndrome, periodontitis, tissue inhibitor of matrix metalloproteinases-1
Identifiers
urn:nbn:se:umu:diva-4311 (URN)10.1080/00016350310008571 (DOI)15198385 (PubMedID)
Available from: 2004-12-09 Created: 2004-12-09 Last updated: 2017-12-14Bibliographically approved
4. Tissue plasminogen activator (t-PA) and placental plasminogen activator inhibitor (PAI-2) in gingival crevicular fluid from patients with Papillon-Lefèvre syndrome
Open this publication in new window or tab >>Tissue plasminogen activator (t-PA) and placental plasminogen activator inhibitor (PAI-2) in gingival crevicular fluid from patients with Papillon-Lefèvre syndrome
2004 (English)In: Journal of Clinical Periodontology, ISSN 0303-6979, E-ISSN 1600-051X, Vol. 31, no 9, 708-712 p.Article in journal (Refereed) Published
Abstract [en]

Objectives: Numerous patients with Papillon–Lefèvre syndrome (PLS) express a severe periodontal inflammation that results in premature loss of deciduous and permanent teeth. The plasminogen activating (PA) system is involved in physiological and pathological processes including epithelial healing, extracellular proteolysis and local inflammatory reactions. The aim of the study was to explore a possible role of the PA system in patients with PLS.

Material and Methods: Samples of gingival crevicular fluid (GCF) were collected from areas with gingival infection in 20 patients with PLS and in 20 healthy controls. The concentration of tissue plasminogen activator (t-PA) and inhibitor (PAI-2) was measured with ELISA.

Results: The median level of PAI-2 was significantly higher (p<0.01) in PLS patients than in the controls, while the median value of t-PA did not differ between the groups. No difference in t-PA or PAI-2 levels was found regarding age, gender or presence of active periodontal disease.

Conclusion: The findings indicate an atypical activity of the PA system with a disturbed epithelial function in PLS patients, suggesting that the periodontal destruction seen in patients with PLS is secondary to a hereditary defect in the defense system.

Keyword
gingival crevicular fluid, gingival inflammation, Papillon–Lefèvre syndrome, plasminogen activating (PA) system
National Category
Dentistry Dentistry
Identifiers
urn:nbn:se:umu:diva-4312 (URN)10.1111/j.1600-051X.2004.00551.x (DOI)15312091 (PubMedID)
Available from: 2004-12-09 Created: 2004-12-09 Last updated: 2017-12-14Bibliographically approved
5. Are permanent teeth doomed to be lost in young patients with Papillon-Lefèvre syndrome?
Open this publication in new window or tab >>Are permanent teeth doomed to be lost in young patients with Papillon-Lefèvre syndrome?
Article in journal (Refereed) Submitted
Identifiers
urn:nbn:se:umu:diva-4313 (URN)
Available from: 2004-12-09 Created: 2004-12-09Bibliographically approved

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