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Background: Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disease characterized by hyperkeratosis of the palms and soles combined with premature loss of the primary and permanent dentition. Several treatment regimens have been recommended in the literature; however, a definitive treatment protocol has not been established. This case report evaluates the success of combined therapy in managing a patient with PLS., Methods: A 6-year-old girl diagnosed with PLS presented with aggressive periodontal destruction of her primary and permanent dentitions. After extraction of periodontally affected teeth, the edentate region was rehabilitated with different temporary dentures until her skeletal growth was complete. At the same time, her orthodontic treatment was performed. The early loss of her incisors resulted in inadequate alveolar bone height and width for esthetic-advanced prosthetic rehabilitation. Alveolar bone augmentation was performed, and 6 months later, two intraosseous dental implants were placed into the central incisor zone., Results: After 13 years of treatment and follow-up, the patient had periodontally healthy permanent dentition. She had practiced meticulous oral hygiene, and the orthodontic treatment was successful and without incident. Alveolar ridge augmentation and placement of an intraosseous implant with guided bone regeneration were performed successfully., Conclusions: This case report demonstrates that individually developed treatment protocols can provide long-term dental/periodontal success in patients with PLS. A multidisciplinary approach with advanced periodontal surgery, orthodontic and prosthetic treatment, and implant therapy may be an appropriate treatment modality for dental rehabilitation in patients with PLS.

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 > or =5 mm. Sixty months (t2) after therapy the number of sites with 4 mm PD with BOP or PD > or =5 mm had increased to 17%, and 79 months after therapy (t3) 13% of all sites were similarly affected. From 26 to 60 months, a slight mean clinical attachment level (CAL) gain was observed, whereas the mean PD increased. From 60 to 79 months, there was a mean PD reduction. However, a significant mean attachment loss was also noted. After 26 months (t1), RNA probes failed to detect A. actinomycetemcomitans, P. gingivalis, or T. forsythensis from any site. Thirty-four months later (t2), subgingival recolonization was observed. A. actinomycetemcomitans was detected by RNA probes at three sites. At 26 and 60 months (t1, t2), trypticase-soy with serum, bacitracin, and vancomycin (TSBV) culture failed to detect A. actinomycetemcomitans at any of the sampled sites. Eighty-two months after the beginning of therapy (t4), none of the applied methods could detect A. actinomycetemcomitans from the pooled samples from the deepest pockets of each quadrant or the oral mucosa. In the present case, concomitant orthodontic treatment with a fixed appliance could be performed without further pronounced periodontal deterioration. Space for eruption of the canines and premolars was created, in addition to an alignment of the teeth., Conclusion: After a successful combined mechanical and antibiotic periodontal therapy of the PLS periodontitis, moderate orthodontic tooth movements may be possible within a complex interdisciplinary treatment regimen.

Background: Papillon-Lefèvre syndrome (PLS) is a disorder that involves destruction of the periodontium and abnormal hyperkeratosis of the palms of the hands and soles of the feet. Mutations of the lysosomal protease cathepsin C gene (CTSC) have been associated with PLS. However, genotypic and phenotypic correlation has not been established. In the present study we investigated the CTSC gene in a Brazilian cohort affected by PLS., Methods: Eight consanguineous members of a kindred with PLS were studied. DNA was extracted and all exons of the gene amplified by the polymerase chain reaction (PCR) using specific primers. Mutations were identified by DNA sequencing of the coding region and introns of the CTSC gene., Results: Sequence analysis of CTSC from subjects affected by PLS identified a novel mutation (587T --> C) in exon 4, predicted to cause a Leu196Pro amino acid substitution. Three of 3 subjects were homozygous for cathepsin C mutations inherited from a common ancestor. One patient was heterozygous and showed plantar hyperkeratosis without periodontal disease. Two other family members were also heterozygous but did not present palmoplantar hyperkeratosis and/or periodontal disease., Conclusions: This study describes a novel mutation of the cathepsin C gene in a Brazilian kindred with Papillon-Lefèvre syndrome.

Aims: This paper reports the treatment of the periodontal component of the Papillon-Lefèvre syndrome in 2 siblings (case A, born 1974; case B, born 1976)., Method: The initial treatment, in 1982, consisted of extraction of all primary teeth, scaling and rootplaning of the erupted permanent teeth and systemic antibiotic therapy. During 15 years, continuous and intensive periodontal treatment consisted of chlorhexidine 0.2% rinses, bi-weekly professional prophylaxis, scaling and rootplaning or surgery if indicated. Systemic antibiotics often accompanied mechanical therapy after bacteriological analysis., Results: In case A, a favourable number of permanent teeth could be maintained, but in case B, all permanent teeth were lost in spite of the intensive treatment. Darkfield microscopy at different intervals revealed high numbers of spirochetes and motile rods in both siblings. Only in case A were they temporarily reduced to zero after scaling and rootplaning combined with metronidazole. Anaerobic cultering revealed high numbers of Actinobacillus actinomycetemcomitans (A.a) in both patients. In 1994, 2 years after combined amoxicillin/metronidazole therapy, no A.a could be detected in case A. In case B, A.a could still be detected and was found to be resistant to metronidazole. One year after extraction of all permanent teeth, could no A.a be detected in case B., Conclusion: Intensive periodontal treatment combined with antibiotic therapy was not able to prevent complete tooth loss in case B. In case A, the treatment was more effective, resulting in preserving a number of permanent teeth in a stable clinical situation. In these 2 cases, no attempt was made to create an edentulous period between the periodontally-diseased mixed dentition and the eruption of the remaining teeth, which may have contributed to treatment failure.

A case of Papillon-Lefèvre syndrome that has been managed successfully for six years is reported. Papillon-Lefèvre syndrome is a rare form of early onset periodontitis that occurs at a rate of 1-3 per million. Diagnostic features include palmar-plantar hyperkeratosis and rapid periodontal destruction. Although the etiology of this syndrome is unknown, current theories on the nature of the underlying defect fall into three main categories: anatomical, bacterial and host response. Historically, Papillon-Lefèvre syndrome was thought to lead to the inevitable loss of both the primary and permanent dentitions. However, a recently proposed treatment involving antibiotic coverage, extraction of the primary dentition and a period of edentulism has been shown to be effective in maintaining the permanent dentition. Since treatment may begin prior to the eruption of the permanent dentition, early recognition of Papillon-Lefèvre syndrome is critical. Any young patient who exhibits palmar hyperkeratosis should be examined carefully for periodontal breakdown. Since the number of cases available for study is limited, referral of such individuals to University dental clinics may allow for a more specific analysis of immune or bacterial factors that may lead to a better understanding of this disease.

Although prepubertal periodontitis (PP) is often associated with the Papillon-Lefèvre (PLS), the etiopathogenetic mechanism in this disease has not been clarified as yet. A three and half year old female with leukocyte chemotaxis deficiency and decrease of T-lymphocytes is presented. The immunohistochemical evaluation of neutrophils showed a reduction of myeloperoxidase content, whereas ultrastructural studies revealed no particular change. The possible role of such a deficiency in the pathogenesis of the periodontal lesion is discussed.

Papillon-Lefevre syndrome in six Saudi children in the same family is described. The parents were unaffected, and parental consanguinity was present. Palmoplantar keratosis started at the age of 1 1/2 years. The loss of deciduous teeth was a consequence of juvenile periodontitis. All essential features of the syndrome were present in this series.