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Christer Ullbro - One of the best experts on this subject based on the ideXlab platform.
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preventive periodontal regimen in Papillon Lefevre Syndrome
Pediatric Dentistry, 2005Co-Authors: Christer Ullbro, Alison Brown, Svante TwetmanAbstract:Purpose: The purpose of this study was to evaluate the effect of a comprehensive preventive program, based on mechanical plaque control and local and systemic antibacterial measures, on periodontal health and preservation of permanent teeth in patients with Papillon-Lefevre Syndrome (PLS). Methods: Thirty-five consecutive PLS patients (median age=7 years; range=3-19 years) were treated and followed every third month over 3 to 7 years. Visible plaque, bleeding on probing, periodontal pockets ≥5 mm, and number of lost permanent teeth were registered at the first visit and during the follow-up period. Due to severe periodontal inflammation, all primary teeth were extracted prior to the eruption of the first permanent tooth. Tooth-brushing was supported by comprehensive periodontal care and local and systemic chemotherapeutics (chlorhexidine and amoxicillin/metronidazole) on individual indications. Results: Subjects treated strictly according to the program from their early years showed significantly fewer signs of periodontal disease and lost fewer permanent teeth than patients who started the program at an older age (P<.05). This was especially true if signs of periodontal disease had emerged when the treatment started. Compliance with the treatment protocol had a significant impact on the presence of plaque, bleeding surfaces, periodontal pockets, and number of lost permanent teeth. Conclusions: Early treatment and compliance with the preventive program were the major determinants for preserving permanent teeth in young PLS patients. (Pediatr Dent 2005; 27:226-232)
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preventive periodontal regimen in Papillon Lefevre Syndrome
Journal of Clinical Pediatric Dentistry, 2005Co-Authors: Christer Ullbro, Alison Brown, Svante TwetmanAbstract:PURPOSE: The purpose of this study was to evaluate the effect of a comprehensive preventive program, based on mechanical plaque control and local and systemic antibacterial measures, on periodontal health and preservation of permanent teeth in patients with Papillon-Lefevre Syndrome (PLS). METHODS: Thirty-five consecutive PLS patients (median age=7 years; range=3-19 years) were treated and followed every third month over 3 to 7 years. Visible plaque, bleeding on probing, periodontal pockets > or = 5 mm, and number of lost permanent teeth were registered at the first visit and during the follow-up period. Due to severe periodontal inflammation, all primary teeth were extracted prior to the eruption of the first permanent tooth. Tooth-brushing was supported by comprehensive periodontal care and local and systemic chemotherapeutics (chlorhexidine and amoxicillin/metronidazole) on individual indications. RESULTS: Subjects treated strictly according to the program from their early years showed significantly fewer signs of periodontal disease and lost fewer permanent teeth than patients who started the program at an older age (P<.05). This was especially true if signs of periodontal disease had emerged when the treatment started. Compliance with the treatment protocol had a significant impact on the presence of plaque, bleeding surfaces, periodontal pockets, and number of lost permanent teeth. CONCLUSIONS: Early treatment and compliance with the preventive program were the major determinants for preserving permanent teeth in young PLS patients.
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dermatologic and oral findings in a cohort of 47 patients with Papillon Lefevre Syndrome
Journal of The American Academy of Dermatology, 2003Co-Authors: Christer Ullbro, Claesgoran Crossner, Tommy Nederfors, Abdullah Alfadley, Kristian ThestruppedersenAbstract:Abstract Papillon-Lefevre 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-Lefevre 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-Lefevre Syndrome are unrelated to each other. (J Am Acad Dermatol 2003;48:345-51.)
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osseointegrated implants in a patient with Papillon Lefevre Syndrome a 4 1 2 year follow up
Journal of Clinical Periodontology, 2000Co-Authors: Christer Ullbro, Claesgoran Crossner, Tord Lundgren, Perake Stalblad, Stefan RenvertAbstract:Background: The Saudi female reported in this study was diagnosed with Papillon-Lefevre Syndrome. She had lost all her teeth, including third molars, at the age of 18 years. Method: She was wearing full dentures for 7 years, before 5 titanium implants were installed in the mandible. Results: 4½ years after the implant installation, the treatment was clinically and radiographically successful. Neither A. actinomycetemcomitans nor P. gingivalis were detected at any of the implants. This very encouraging result does not differ from what is generally reported in edentulous medically healthy patients. Conclusion: The use of implants could considerably enhance future therapeutic options for the severely dentally compromised patients with Papillon-Lefevre Syndrome.
Erhan Firatli - One of the best experts on this subject based on the ideXlab platform.
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evidence of a founder effect for four cathepsin c gene mutations in Papillon Lefevre Syndrome patients
Journal of Medical Genetics, 2001Co-Authors: Y Zhang, P S Hart, Erhan Firatli, C Uygur, J J Marks, T Lundgren, Stefan Renvert, D N Tatakis, Michael C Gorry, Thomas C HartAbstract:We describe a mutation and haplotype analysis of Papillon-Lefevre Syndrome probands that provides evidence of a founder effect for four separate cathepsin C mutations. A total of 25 different cathepsin C mutations have been reported in 32 families with Papillon-Lefevre Syndrome (PLS) and associated conditions. A characteristic of these findings is the diversity of different cathepsin C mutations that have been identified. To evaluate the generality of cathepsin C mutations, PLS probands representative of five reportedly unrelated Saudi Arabian families were evaluated by mutational and haplotype analyses. Sequence analysis identified two cathepsin C gene mutations: a novel exon 7 G300D mutation was found in the proband from one family, while probands from four families shared a common R272P mutation in exon 6. The R272P mutation has been previously reported in two other non-Saudi families. The presence of the R272P mutation in probands from these four Saudi families makes this the most frequently reported cathepsin C mutation. To distinguish between the presence of a possible founder effect or a mutational hot spot for the R272P mutation, we performed haplotype analysis using six novel DNA polymorphisms that span a 165 kb interval containing the cathepsin C gene. Results of haplotype analysis for genetic polymorphisms within and flanking the cathepsin C gene are consistent with inheritance of the R272P mutation "identical by descent" from a common ancestor in these four Saudi families. Haplotype analysis of multiple PLS probands homozygous for other cathepsin C mutations (W249X, Q286X, and T153I) also supports inheritance of each of these mutations from common ancestors. These data suggest that four of the more frequently reported cathepsin C mutations have been inherited from common ancestors and provide the first direct evidence for a founder effect for cathepsin C gene mutations in PLS. Identification of these six short tandem repeat polymorphisms that span the cathepsin C gene will permit haplotype analyses to determine other founder haplotypes of cathepsin C mutations in additional PLS families.
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sublocalization of the Papillon Lefevre Syndrome locus on 11q14 q21
American Journal of Medical Genetics, 1998Co-Authors: Thomas C Hart, And Ahmet Efeoglu, Donald W Bowden, Khaled A Ghaffar, Wei Wang, Christopher W Cutler, Irfan Cebeci, Erhan FiratliAbstract:Papillon-Lefevre Syndrome (PLS) is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. The presence of severe periodontitis distinguishes PLS from other palmoplantar keratodermas. As part of our efforts to study the genetic basis of periodontitis susceptibility, we performed a genome-wide search to identify major loci for PLS in 44 individuals (14 affected) from 10 consanguineous PLS families. We have identified evidence for linkage of a PLS gene on 11q14-q21. A maximum two-point logarithm of the odds (LOD) score of 8.24 was obtained for D11S1367 at a recombination fraction of theta=0.00. Multipoint analysis resulted in a LOD score of 10.45 and placed the gene for PLS within a 4-5 cM genetic interval. This genetic interval, flanked by D11S4197 and D11S931, contains more than 50 cDNAs and 200 expressed sequence tags (ESTs). This refinement of the candidate region for a PLS gene is in agreement with other recent reports of linkage for PLS to chromosome 11q14-q21 and should help in identification of the gene for PLS.
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clinical and immunological findings in 2 siblings with Papillon Lefevre Syndrome
Journal of Periodontology, 1996Co-Authors: Erhan Firatli, And Ahmet Efeoglu, Nuray Gurel, Selim BadurAbstract:Rapid and severe destruction of periodontal tissues in early childhood has been reported both in systemically healthy children and in children with systemic disorders. In this study, the clinical and immunological findings of two siblings in a family with Papillon-Lefevre Syndrome are presented. The peripheral blood lymphocytes were analyzed using a double colored flow cytometry and adequate monoclonal antibodies to CD2, CD3, CD4, CD5, CD8, CD11b, CD16, CD19, and HLA-DR receptors. CD11b expression was found to be higher in both siblings (35% and 37%). The elevated CDllb expression may be related to a defect in neutrophils. The expression of natural killer cells was found to be higher in one patient but the results were in normal range. The CD2+, CD3+, CD4+, CD5+, CD8+, and CD19+ lymphocytes were in normal range in both patients. We think that the depressed chemotaxis of peripheral neutrophils, and higher expression of HLA-DR and CD11b molecules in peripheral leukocytes were useful in explaining the pathog...
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Papillon Lefevre Syndrome analysis of neutrophil chemotaxis
Journal of Periodontology, 1996Co-Authors: Erhan Firatli, Binnur Tuzun, And Ahmet EfeogluAbstract:Papillon-Lefevre Syndrome (PLS) is described as the association of palmar-plantar hyperkeratosis with precocious periodontal disease which results in exfoliation of primary and permanent dentitions. This study was planned to assess the chemotaxis of peripheral blood neutrophils in 7 patients (3 females and 4 males) with Papillon-Lefevre Syndrome. The neutrophil chemotaxis was analyzed using the zymosan activated serum (ZAS) assay. Chemotaxis and spontaneous migration measurements were compared to those of the healthy control subjects. The peripheral blood neutrophil chemotaxis and spontaneous migration were depressed in all patients with Papillon-Lefevre Syndrome. The decreased chemotaxis of peripheral blood neutrophils strongly suggests that the neutrophils may act as one of the important key determinants in the pathogenesis of severe periodontal destruction in patients with PLS.
Sinan Sari - One of the best experts on this subject based on the ideXlab platform.
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eponym Papillon Lefevre Syndrome
European Journal of Pediatrics, 2011Co-Authors: Buket Dalgic, Aysegul Bukulmez, Sinan SariAbstract:Papillon-Lefevre Syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset periodontitis, affecting the primary and permanent dentition. The Syndrome was first described by Papillon and Lefevre in 1924. Genetic, immunologic, and microbiologic factors are suggested as responsible for the initiation and progression of the disease. A point mutation of cathepsin C gene has recently been detected in PLS. A multidisciplinary approach is important for management .The prognosis has improved with the early recognition of the Syndrome, effective professional supervision, and home care.
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Pyogenic liver abscess and peritonitis due to Rhizopus oryzae in a child with Papillon-Lefevre Syndrome.
European Journal of Pediatrics, 2010Co-Authors: Buket Dalgic, Aysegul Bukulmez, Sinan SariAbstract:Papillon–Lefevre Syndrome (PLS) is an autosomal recessive disease that is characterized by symmetric palmoplantar keratodermatitis and severe periodontal destruction. Mutations in the cathepsin C gene (CTSC) have recently been detected in PLS. Immune dysregulation, due to a mutation in CTSC, increases the risk of pyogenic infections in PLS patients. A child with PLS is presented here with liver abscesses and peritonitis caused by Rhizopus oryzae. His liver abscess and peritonitis were cured with amphotericin B without surgical care. This is the first case in the literature liver abscess due to Rhizopus oryzae in a child with PLS.
Peter Eickholz - One of the best experts on this subject based on the ideXlab platform.
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functional cathepsin c mutations cause different Papillon Lefevre Syndrome phenotypes
Journal of Clinical Periodontology, 2008Co-Authors: Barbara Noack, Heike Görgens, Beate Schacher, Magda Puklo, Peter Eickholz, Thomas Hoffmann, Hans K. SchackertAbstract:Aim: The autosomal-recessive Papillon-Lefevre Syndrome (PLS) is characterized by severe aggressive periodontitis, combined with palmoplantar hyperkeratosis, and is caused by mutations in the Cathepsin C (CTSC) gene. This study aimed to identify CTSC mutations in different PLS phenotypes, including atypical forms and isolated pre-pubertal aggressive periodontitis (PAP). Material and Methods: Thirteen families with different phenotypes were analysed by direct sequencing of the entire coding region and the regulatory regions of CTSC. The function of novel mutations was tested with enzyme activity measurements. Results: In 11 of 13 families, 12 different pathogenic CTSC mutations were found in 10 typical PLS patients, three atypical cases and one PAP patient. Out of four novel mutations, three result in protein truncation and are thus considered to be pathogenic. The homozygous c.854C>T nucleotide exchange (p.P285L) was associated with an almost complete loss of enzyme activity. The observed phenotypic heterogeneity could not be associated with specific genotypes. Conclusions: The phenotypic variability of the PLS associated with an identical genetic background may reflect the influence of additional genetic or environmental factors on disease characteristics. CTSC mutation analyses should be considered for differential diagnosis in all children suffering from severe aggressive periodontitis.
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orthodontic treatment in a patient with Papillon Lefevre Syndrome
Journal of Periodontology, 2005Co-Authors: Christopher J Lux, Birgit Kugel, Gerda Komposch, Sabine Pohl, Peter EickholzAbstract:Background: Report of a combined periodontal and orthodontic treatment in a patient with Papillon-Lefevre Syndrome (PLS). Methods: A patient with PLS was treated orthodontically 26 months after the start of a combined mechanical and antibiotic therapy. Clinical periodontal parameters were obtained 26 (t1), 60 (t2), and 79 (t3) months after anti-infective therapy. The deepest site of each tooth was sampled for microbiological analysis at 26 and 60 months. Periodontal maintenance therapy was provided every 6 weeks. After a stable periodontal situation was achieved, orthodontic treatment, consisting of space opening for the upper canines with a multibracket appliance and coil springs, was carried out. In the lower jaw, crowding was resolved by an orthodontic mesialization of the canines. Results: Twenty-six months (t1) after the beginning of the combined mechanical and antibiotic therapy, 6% of the sites exhibited 4 mm probing depth (PD) with bleeding on probing (BOP) or PD ≥5 mm. Sixty months (t2) after the...
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novel mutations in the cathepsin c gene in patients with pre pubertal aggressive periodontitis and Papillon Lefevre Syndrome
Journal of Dental Research, 2004Co-Authors: Barbara Noack, Heike Görgens, Peter Eickholz, Th Hoffmann, Jutta Fanghanel, T Kocher, Hans K. SchackertAbstract:Aggressive periodontitis (AP) in pre-pubertal children is often associated with genetic disorders like Papillon-Lefevre Syndrome (PLS). PLS is caused by mutations in the cathepsin C (CTSC) gene. We report a novel CTSC mutation (c.566-572del) in an otherwise healthy AP child and two novel compound heterozygous mutations (c.947T>G, c.1268G>C) in a PLS patient. We conclude that at least a subset of pre-pubertal AP is due to CTSC mutations and therefore may be an allelic variant of PLS.
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combined mechanical and antibiotic periodontal therapy in a case of Papillon Lefevre Syndrome
Journal of Periodontology, 2001Co-Authors: Peter Eickholz, Birgit Kugel, Sabine Pohl, Helmut Naher, Hans Jorg StaehleAbstract:Background: Papillon Lefevre Syndrome (PLS) is rare entity and, as such, it is almost impossible to evaluate an effective therapy in a randomized controlled study. The amount of success reported after therapy for prepubertal periodontitis (PP) in PLS is highly variable from case to case. The goal of this case report is to evaluate the effects of a combined mechanical and antibiotic periodontal therapy regimen in the management of PLS. Methods: A male patient was diagnosed as suffering from PP associated with PLS at the age of 7 years. He showed hyperkeratosis of the palms and soles, as well as advanced periodontal disease already affecting permanent teeth with maximal probing depth and vertical attachment loss of 12 mm and 11 mm, respectively. Subgingival debridement was performed with simultaneous administration of oral 250 mg amoxicillin 3 times daily and 250 mg metronidazole twice daily for one week. Clinical parameters were assessed and subgingival plaque was collected from all teeth prior to therapy ...
Adolfo Contreras - One of the best experts on this subject based on the ideXlab platform.
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treatment of Papillon Lefevre Syndrome periodontitis
Journal of Clinical Periodontology, 2002Co-Authors: Jose Pacheco, C Coelho, Filomena Salazar, Adolfo Contreras, Jorgen Slots, Corsina VelazcoAbstract:Background, aims: Conventional mechanical treatment of Papillon-Lefevre Syndrome periodontitis has a poor prognosis. This report describes an effective antimicrobial treatment of rapidly progressing periodontitis in an 11-year old girl having Papillon-Lefevre Syndrome. Method: Clinical examination included conventional periodontal measurements and radiographic analysis. Occurrence of major suspected periodontopathic bacteria was determined by selective and non-selective culture and by polymerase chain reaction (PCR) identification. Presence of cytomegalovirus and Epstein-Barr type 1 virus was determined by a nested-PCR detection method. Therapy included scaling and root planing, oral hygiene instruction, and systemic amoxicillin-metronidazole therapy (250 mg of each/3 times daily/10 days) which, based on follow-up microbiological testing, was repeated after 4 months. Supportive periodontal therapy took place at 2 visits during a 16-month period. Results: At baseline, 10 of 22 available teeth demonstrated severe periodontal breakdown. At 16 months, probing and radiographic measurements revealed no teeth with additional attachment loss, and several teeth exhibited significant reduction in gingivitis and pocket depth, increase in radiographic alveolar bone height and clinical attachment level, and radiographic evidence of crestal lamina dura. Baseline subgingival microbiota included Actinobacillus actinomycetemcomitans (3.4% of total isolates), Prevotella nigrescens (16.4%), Fusobacteriumnucleatum (14.3%) and Peptostreptococcus micros (10.6%), as well as cytomegalovirus and Epstein-Barr type 1 virus. At termination of the study, culture and PCR examinations showed absence of A. actinomycetemcomitans,P. micros and herpesviruses, and P. nigrescens and F.nucleatum each comprised less than 0.1 % of subgingival isolates. Conclusion: This study suggests that controlling the periodontopathic microbiota by appropriate antibiotic and conventional periodontal therapy can arrest Papillon-Lefevre Syndrome periodontitis.
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microbiological features of Papillon Lefevre Syndrome periodontitis
Journal of Clinical Periodontology, 1999Co-Authors: Corsina Velazco, C Coelho, Filomena Salazar, Adolfo Contreras, Jorgen Slots, Jose PachecoAbstract:Abstract. Papillon-Lefevre Syndrome patients exhibit hyperkeratosis palmoplantaris and severe periodontitis. The Syndrome is an autosomal recessive trait, but the mechanism of periodontal destruction is not known. This report presents the clinical and microbiological features of an 11-year old girl with Papillon-Lefěvre Syndrome. Clinical examination included conventional periodontal measurements and radiographic analysis. In samples from 3 deep periodontal lesions, the occurrence of major suspected periodontopathic bacteria was determined by selective and non-selective culture and polymerase chain reaction (PCR) identification, and the presence of cytomegalovirus and Epstein-Barr type 1 virus by a nested-PCR detection method. 10 of 22 available teeth demonstrated severe periodontal breakdown. Major cultivable bacteria included Actinobacillus actinomycetemcomitans (3.4% of total isolates), Prevotella nigrescens (16.4%), Fusobacterium nucleatum (14.3%) and Peptostreptococcus micros (10.6%). A. actinomycetemcomitans, P. nigrescens, Porphyromonas gingivalis and Eikenella corrodens were identified by PCR analysis. The patient's non-affected parents and older brother revealed several periodontal pathogens but not A. actinomycetemcomitans. The viral examination demonstrated cytomegalovirus and Epstein-Barr type 1 virus in the subgingival sample of the Papillon-Lefevre Syndrome patient. The father and brother yielded subgingival cytomegalovirus but not Epstein-Barr type 1 virus. We hypothesize that human herpesviruses in concert with A. actinomycetemcomitans play important roles in the development of Papillon-Lefevre Syndrome periodontitis.
