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Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome
Umeå University, Faculty of Medicine, Department of Odontology.
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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.

Place, publisher, year, edition, pages
2003. Vol. 48, no 3, 345-351 p.
URN: urn:nbn:se:umu:diva-4309DOI: 10.1067/mjd.2003.197OAI: diva2:143338
Available from: 2004-12-09 Created: 2004-12-09 Last updated: 2010-08-30Bibliographically approved
In thesis
1. Studies on clinical expression, genotype, and gingival crevicular fluid characteristics in young patients with Papillon-Lefèvre syndrome
Open this publication in new window or tab >>Studies on clinical expression, genotype, and gingival crevicular fluid characteristics in young patients with Papillon-Lefèvre syndrome
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.

51 p.
Umeå University odontological dissertations, ISSN 0345-7532 ; 89
Research subject
urn:nbn:se:umu:diva-384 (URN)91-7191-882-5 (ISBN)
Public defence
2004-12-17, Sal B, Tandläkarhögskolan, 9 tr, Norrlands Universitetssjukhus, Umeå, 13:00
Available from: 2004-12-09 Created: 2004-12-09Bibliographically approved

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