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Data Sources: A systematic search of PubMed, LIVIVO, and Ovid was conducted up to March 2021. These databases were searched for relevant clinical studies on periodontal treatment success in individuals with Papillon-Lefèvre syndrome (PLS)., Study Selection: Clinical studies reporting successful treatment outcomes defined as the loss of four or fewer permanent teeth due to periodontitis and the arrest of periodontitis or probing depths of 5 mm or less in individuals with PLS followed up for ≥24 months were included, and data extracted., Data Extraction and Synthesis: Twelve studies reporting on nine PLS patients met the inclusion criteria. The extracted main outcomes in the studies reporting successful periodontal treatment in PLS were as follows: (1) clinical and genetic diagnosis of PLS; (2) age at baseline; (3) initial dental, periodontal parameters, and microbiological assessment, if available; (4) description of disease progression and applied therapies; and (5) outcome and follow-up., Results: Twelve studies reporting nine individuals were included. The timely extraction of affected or all primary teeth, compliance with oral hygiene instructions, supra- and subgingival debridement within frequent supportive periodontal care intervals, and adjunctive systemic antibiotic therapy in most patients affected a halt in disease progression. Suppression of Aggregatibacter actinomycetemcomitans below detection limits was associated with periodontal stabilization., Conclusions: An intensive, multidisciplinary approach with strict compliance may enable the decelerated progression of PLS-associated periodontitis. The early diagnosis of PLS and the suppression of A. actinomycetemcomitans below the detection level might be critical factors for treatment success. It required significant effort and patient compliance. The study emphasized the importance of timely interventions, oral hygiene maintenance, regular professional dental care, and, in some cases, systemic antibiotics., (© 2023. The Author(s), under exclusive licence to British Dental Association.)

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive syndrome, and consanguinity has been reported in 20%-40% of cases. It is characterised by palmoplantar hyperkeratosis associated with severe early-onset periodontitis and premature loss of primary and permanent teeth. This report describes a case of PLS in a female patient with consanguineously married parents. The patient reported mobile upper front teeth. Clinical examination revealed presence of marked palmoplantar hyperkeratosis.Symmetric, well-demarcated, yellowish, keratotic and confluent plaques were seen on the skin of her palms and soles. Intraoral periodontal examination revealed erythematous gingiva with generalised periodontal pockets. Generalised mobility of teeth was present with clinically missing lower anterior teeth. Based on clinical and radiographic feature and the patient's medical, dental and family history, a diagnosis of PLS was made., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by palmoplantar keratoderma and severe periodontitis leading to premature loss of primary and permanent teeth. PLS is caused by loss-of-function mutations in CTSC, lacking functional cathepsin C, which impairs the activation of neutrophil serine proteases. Precise pathogenesis of periodontal damage is unknown. Patient 1 presented with well-demarcated, transgredient, diffuse, palmoplantar keratoderma and psoriasiform lesions from the age of 2 years. Based on severe and recurrent periodontal inflammation, his dentist had diagnosed PLS at the age of 3 years and provided a strict oral hygiene regimen with repeated adjunct antibiotic therapies. Oral acitretin 10 mg/day along with tretinoin ointment at the age of 9 greatly improved palmoplantar keratoderma. Aged 18 years, the patient exhibited an intact permanent dentition and absence of periodontal disease. Patient 2, a 30-year-old man, suffered from transgredient, diffuse, palmoplantar keratoderma with fissuring from the age of 2 months, marked psoriasiform plaques on elbows and knees, and nail dystrophy. Intriguingly, without specific dental treatment, teeth and dental records were unremarkable. He was referred with a suspected diagnosis of psoriasis. Both patients were otherwise healthy, blood tests and sonography of internal organs were within normal limits. Panel sequencing revealed loss-of-function mutations in CTSC, c.322A>T (p.Lys108Ter) and c.504C>G (p.Tyr168Ter) in patient 1 and homozygous c.415G>T (p.Gly139Ter) in patient 2. The final diagnosis of unusual PLS was made. PLS should be considered in palmoplantar keratoderma lacking periodontitis or tooth loss., (© 2021 Japanese Dermatological Association.)

The field of primary immunodeficiencies (PIDs) is rapidly evolving. Indeed, the number of described diseases is constantly increasing thanks to the rapid identification of novel genetic defects by next-generation sequencing. PIDs are now rather referred to as "inborn errors of immunity" due to the association between a wide range of immune dysregulation-related clinical features and the "prototypic" increased infection susceptibility. The phenotypic spectrum of PIDs is therefore very large and includes several orofacial features. However, the latter are often overshadowed by severe systemic manifestations and remain underdiagnosed. Patients with impaired innate immunity are predisposed to a variety of oral manifestations including oral infections (e.g., candidiasis, herpes gingivostomatitis), aphthous ulcers, and severe periodontal diseases. Although less frequently, they can also show orofacial developmental abnormalities. Oral lesions can even represent the main clinical manifestation of some PIDs or be inaugural, being therefore one of the first features indicating the existence of an underlying immune defect. The aim of this review is to describe the orofacial features associated with the different PIDs of innate immunity based on the new 2019 classification from the International Union of Immunological Societies (IUIS) expert committee. This review highlights the important role played by the dentist, in close collaboration with the multidisciplinary medical team, in the management and the diagnostic of these conditions., (Copyright © 2020 Jung, Gies, Korganow and Guffroy.)

Objectives: To identify the molecular basis of Papillon-Lefèvre syndrome in two Chinese families., Methods: Peripheral blood and mouth swab samples were obtained, from which genomic DNA and RNA were isolated. Sanger sequencing was employed to identify the mutations. mRNA expression was tested by real-time quantitative PCR. Evolutionary conservation, pathogenicity prediction and impact of protein structures of the mutations were conducted with bioinformatics tools and homology modelling. HEK293 cells were transfected with plasmids expressing wild-type or mutated CTSC. CTSC protein expression level and enzyme activity were explored., Results: Mutation analysis revealed two novel compound heterozygous mutations, the c.190-191insA and c.1211-1212delA in patient 1 and the c.716A>G and c.757+1G>A in patient 2. In both patients, the levels of CTSC mRNA were significantly lower than in their relatives. Homology modelling analysis predicted that the mutations affect the structure and stability of the protein, and in vitro study showed that the CTSC proteins containing the mutations c.190-191insA and c.1211-1212delA, which result in truncated versions of protein, display impaired enzyme activity. The protein containing c.716A>G mutation showed quite similar enzyme activity compared to wild-type CTSC., Conclusion: Our data support the molecular mechanism of PLS and enlarge the scope of CTSC gene mutations related to PLS., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. All rights reserved.)

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth. Unfortunately, studies have shown that this regimen only temporarily delays the progression of periodontal disease and does not prevent further tooth loss and bone destruction in the long term. Post-tooth loss, atrophic ridges make conventional prosthodontic rehabilitation quite challenging, and more recently, implant-supported prostheses have been considered as a viable alternative. In a PLS patient, implant placement is complicated by inadequate bone volume; thus, bone augmentation techniques or the use of short implants is often considered. When large volumes of bone are required, parietal calvarium bone can be used to predictably reconstruct severe defects. A PLS patient aged 21 years presented a chief complaint of ill-fitting conventional complete dentures. The patient had severely atrophic ridges, requiring significant bone augmentation for an implant-supported prosthesis. The present case is the first example of bone augmentation using autogenous calvarium parietal graft followed by endosseous implant placement and prosthetic restoration in a PLS patient.

Purpose: To discuss the association between ocular surface squamous neoplasia (OSSN) and Papillon-Lefèvre syndrome (PLS) and present the long-term outcome in a patient with these diseases., Methods: Case report., Results: A 14-year-old boy presented with a raised pigmented mass lesion at the limbus in the right eye, which was clinically suggestive of OSSN. He also had palmoplantar hyperkeratosis and periodontosis suggestive of PLS. Excision biopsy of the lesion confirmed the diagnosis of OSSN. He was free of tumor recurrence for 2 years and was lost to follow-up thereafter. Seven years later, the patient presented with diffuse tumor recurrence with orbital extension in the right eye, regional lymph node metastasis, and ipsilateral parotid gland infiltration. The patient underwent exenteration of the right orbital contents, right parotidectomy, and radical neck dissection followed by concomitant external beam radiotherapy and systemic chemotherapy. Eleven years from initial presentation, the patient was detected to have OSSN in the contralateral eye and was managed by wide excision biopsy and adjuvant cryotherapy. One year after detection of OSSN in the left eye, the patient was found to have systemic metastases to the lungs and brain. The patient died of the disease within 3 months of detection of systemic metastasis., Conclusions: OSSN in PLS is associated with poor prognosis.

Introduction: Papillon-Lefèvre Syndrome is a rare autosomal recessive disorder characterized by diffuse, transgradient palmoplantar keratoderma, destructive periodontitis beginning in childhood, premature loss of primary teeth, and frequent cutaneous and systemic pyogenic infections. Pyogenic liver abscess is an uncommon presentation of the disease present in this case., Case Presentation: A 16-year-old Punjabi, Pakistani boy presented to the outpatient department of a tertiary-care hospital of Lahore with high-grade fever of 2 months duration. He had been treated for a pyogenic liver abscess 2 years back with antibiotics followed by incision and drainage. He had poor orodental hygiene, palmoplantar keratoderma and periodontitis. His parents had history of consanguinity. His brother and two cousins had similar skin lesions and were edentulous. An orthopentogram showed atrophy of the alveolar bone. He was treated with broad-spectrum antibiotics, and antipyretics for systemic infection. Multivitamins, topical steroids, topical keratolytics and emollients were used for his dermatological issues., Conclusions: Our patient was successfully treated. His fever settled and his skin lesions improved with antibiotics, topical steroids and keratolytics. He was sent home and was asked to return for follow-up on a monthly basis.

We report the first case of a girl who presented with Papillon-Lefèvre syndrome (PLS) and subsequently developed systemic lupus erythematosus and liver cirrhosis. This indicates that autoimmune diseases can be a complication in patients with PLS. Cathepsin C gene mutations were not found in our patient or her mother. Thus, other genetic factors may have been involved in this patient., (© The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.)

Papillon Lefevre Syndrome ( PLS ) is a very rare genetic syndrome that only less than 500 cases have reported in the world. Patients have a typical cutaneous involvement with hyperkeratosis especially on the soles and palms and early shedding of primary teeth. Internal organs involvement such as liver abscess has been presented as case reports. This is for the first time that a genetically documented PLS with footsteps of mycobacterium tuberculosis in liver and kidney will report.

Aim: Retrospective evaluation of periodontal status in patients with Papillon-Lefèvre syndrome (PLS) observed for ≥10 years; identification of factors that may influence treatment outcome; and reporting of the outcome of dental implants in four PLS patients., Methods: All PLS patients currently registered at the Department of Periodontology, Goethe-University Frankfurt with a follow-up ≥10 years (13-33 years; mean 22 years) were recruited. Eight patients (aged 17-46 years) from five families (three pairs of siblings) were included., Results: After comprehensive periodontal therapy in eight PLS patients, teeth were retained in only two. In six patients, all teeth were extracted, almost entirely due to periodontal reasons. In four patients, teeth were prosthodontically restored with implants. Currently, three patients already show peri-implantitis., Conclusions: In some PLS patients, periodontitis may be arrested by: combined mechanical and antibiotic periodontal treatment; extraction of severely diseased teeth; oral hygiene instructions; intensive maintenance therapy; and microbiological monitoring and treatment of the infection with Aggregatibacter actinomycetemcomitans. Implants in PLS patients who did not follow any maintenance programme have a high risk of peri-implantitis and implant loss. Treatment of PLS patients has always to be considered as high-risk cases., (© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Papillon-Lefèvre syndrome is characterised by palmoplantar keratoderma, periodontitis and pyogenic infections. We describe the first case of brain abscess in a child with this syndrome. We highlight the importance of recognising any associated diagnosis, however rare or apparently irrelevant, in an acutely and critically ill child.

The purpose of this case report was to describe the clinical long-term outcome, 11 years after periodontal therapy, of 2 siblings diagnosed with Papillon-Lefèvre syndrome. Sibling 1 was a 14-year-old boy with severe periodontal bone loss in his permanent dentition. Sibling 2 was a 7-year-old girl with mixed-dentition and also suffering from periodontal disease. Both were treated with a combination of nonsurgical and antimicrobial therapy. Annual re-evaluations were performed for 11 years. Both siblings improved their periodontal status, but a low level of compliance with treatment over time by sibling 1 resulted in further tooth loss and recurrent periodontal disease. Sibling 2 experienced good periodontal healing in her primary and, later, permanent teeth due in part to proper compliance with oral hygiene instructions. Periodontal health was achieved, and no tooth loss occurred during follow-up. Papillon-Lefèvre syndrome subjects can be successfully treated with nonsurgical/antimicrobial therapy, but treatment outcome could be related to age at diagnosis and compliance with oral hygiene procedures.

Unlabelled: The general dental practitioner and paediatric dentist are in a unique position to identify and distinguish between a seemingly innocuous condition that may be a normal physiological aberration or an early sign of severe destructive periodontal disease. Although severe destructive periodontal conditions are uncommon in children, it is essential that children receive a periodontal screening as part of their regular dental examination. Early diagnosis ensures a high likelihood of a successful therapeutic outcome, primarily by reduction of aetiologic factors, remedial therapy and development of an effective maintenance protocol. This prevents the recurrence and progression of disease and reduces the incidence of tooth loss. In the first article, we discussed the classification, plaque-induced and non plaque-induced gingival diseases, localized and generalized forms of chronic as well as aggressive periodontitis. In this second article, we discuss periodontitis as a manifestation of systemic disease, necrotizing periodontal diseases, periodontal screening and basic periodontal examination, and treatment of periodontal diseases in children and adolescents., Clinical Relevance: Incorporation of periodontal screening in regular dental examination by dentists can help in early diagnosis and treatment of periodontal diseases. This could prevent further progression of disease and reduce the frequency of tooth loss.

A rare case of Papillon-Lefevre syndrome is discussed with clinicoradiological presentation. The purpose of the case report is to make the medical community aware of this rare syndrome and its association with consanguinity. Papillon-Lefevre syndrome is an extremely rare genodermatosis of autosomal-recessive inheritance which usually manifests itself between the ages of 6 months to 4 years characterised by diffuse palmoplanter hyperkeratosis (keratoderma), and rapidly progressive and devastating periodontitis, affecting the primary as well as permanent dentition. Papillon-Lefevre syndrome results from a combination of host and bacterial factors, including recessive gene, consanguinity, specific periodontal pathogens and lack of thorough oral hygiene. The present case report describes Papillon-Lefevre syndrome and its association with consanguinity in a 3-year-old girl.

A 5-year-old female with Papillon-Lefèvre syndrome presented with renal mass. A radiological diagnosis of malignancy was made; however, partial nephrectomy revealed granulomatous disease indicative of chronic infection. Although liver abscess is an emerging complication in patient with Papillon-Lefèvre syndrome, this case represents the first renal abscess described in such patients.

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder. The oral manifestations of the syndrome include rapidly progressive periodontal disease resulting in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age and require prosthodontic treatment. This report is the oral rehabilitation of an edentulous 21-year-old woman with PLS. Treatment included maxillary and mandibular fixed prostheses supported by osseointegrated dental implants. At the 4-year follow-up, the patient presented significant improvements in oral function and psychosocial activities and no prosthetic complications., (© 2011 by the American College of Prosthodontists.)

Background: This case report describes the clinical and microbiologic long-term outcome 5 years after periodontal therapy of two siblings diagnosed with Papillon-Lefèvre syndrome (PLS) and tinea capitis., Methods: In 2005, two brothers diagnosed with PLS and tinea capitis began periodontal treatment. Both of them showed premature mobility of the primary dentition, markedly increased probing depths, and subgingival Aggregatibacter actinomycetemcomitans (previously Actinobacillus actinomycetemcomitans; Aa). Initial therapy consisted of scaling and root planing based on the concept of full-mouth disinfection, extraction of periodontally hopeless deciduous teeth, and systemic antibiotics. Reevaluation of clinical parameters revealed a dramatic improvement. After that, the patients were enrolled in a stringent maintenance program. Microbiologic monitoring was performed 1 and 5 years after treatment., Results: Five years after initial treatment, the periodontal situation was stable in both patients. Residual deciduous teeth, with the exception of one tooth, could be retained and no further teeth were lost. Further disease progression on the previously involved teeth was controlled, and development of periodontitis on erupting teeth was prevented for a period of 5 years., Conclusions: Even periodontally affected deciduous teeth can be treated successfully in patients with PLS. Suppression of Aa and a stringent maintenance program are of high importance.

Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmoplanter hyperkeratosis of the skin and severe periodontal disease extending to destruction of the alveolar bone surrounding deciduous and permanent teeth as they erupt leading to precocious loss of dentition. Although the exact pathogenesis of this syndrome is still unknown immunologic, microbiologic, and genetic bases have been proposed. Here we report a case of Papillon-Lefevre syndrome. The patient had generalized plaque accumulation along with halitosis, mobile teeth with periodontal pocket with pus exudation. Blood & biochemical report was within normal limit with a low CD3+ and CD4+.

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder. Main features of PLS are hyperkeratosis of palms and soles concomitant with premature loss of primary and permanent dentition due to progressive periodontitis. Dental management of patients with PLS is usually challenging because of early excessive loss of alveolar bone support. We describe dental rehabilitation of a 34-year-old patient with PLS with severely atrophic mandible by means of 2 short (6 mm) dental implants between 2 mental foramina supporting an implant retained complete denture. After 1 year of follow-up period, the patient was doing well and there was no sign of bone resorption. In patients with PLS, dental osseointegrated implants (even with shorter lengths) can be safely used for atrophic mandibles instead of invasive preprosthetic applications such as bone augmentation, nerve lateralization, or alveolar distraction to avoid possible complications.

The panoramic radiographs of six Papillon-Lefèvre affected siblings from one family are evaluated and compared. These six affected siblings range in age from seven to twenty-four years of age. Tooth loss and periodontal disease progression are radiographically documented as these affected siblings age and eventually become endentulous with evident ridge resorption.

An 8 year old boy presented with fever of unknown origin in whom the diagnosis of liver abscess was made. He also had palmoplantar keratoderma and premature loss of teeth, consistent with the diagnosis of Papillon Lefevre syndrome.

We present a case of Papillon-Lefèvre syndrome in an 8-year-old child. The syndrome is characterized by periodontal disease affecting the deciduous and permanent dentition, along with palmar and plantar keratosis. Other symptoms include increased susceptibility to infections. Family history revealed consanguinity and similar findings in her two siblings. A review of several reports describe successful outcomes in a few patients, which suggests it may be possible to halt the periodontal disease process if one uses a combined and intensive mechanical and antimicrobial treatment approach in these patients.

Papillon Lefevre Syndrome is an autosomal recessive disorder. One of the most destructive forms is a periodontal disease. A 19 year female with the syndrome, came for dental treatment. Most of her natural dentition was missing. The remaining five natural teeth had extensive carious and periodontal lesions. Two poor dentures replaced the missing teeth. Her main oral complaints were poor esthetics, teeth sensitiveness, and dentures instability. All the remaining natural teeth were removed and the dentures repaired and rebased in one session. Following wound healing and the maturation of the residual ridge, a set of complete dentures was made. Two years after the delivery of the full dentures, an additional set of dentures were provided for social and emotional reasons. 9 years after the last extractions, the patient refuses to undergo bone augmentation and osseointegrated implant procedures, for future preventive and oral rehabilitation care. There is a strong possibility of chronic bone tissue resorption conducive to dentures instability, mandibular nerves exposures and or, perforation of the maxillary sinuses.

Various approaches for treating the periodontal condition associated with Papillon-Lefèvre syndrome (PLS) have been reported. These include oral hygiene instruction, use of mouth rinses, frequent debridement, multiple antibiotic regimens, periodontal surgery, extraction of hopeless teeth, and extraction of all primary teeth. The objective of this paper is to review the literature on the different treatment approaches of patients with PLS and to illustrate the importance of early diagnosis as well as treatment in long-term maintenance of oral health. Because PLS is rare, most publications are case reports, and very few document long-term successful treatment of the periodontal condition. Several treatment approaches are summarized in this paper with the long-term reports. The importance of early diagnosis is highlighted. The recommendation is that young patients with skin lesions and severe periodontal destruction together with premature loss of teeth should be referred to a periodontist as early as possible. This should prevent or delay tooth loss and enhance early replacement of missing teeth for preservation of function and esthetics. In conclusion, successful periodontal management of PLS patients remains challenging. However, as our understanding of the etiological factors increases, it is hoped that successful treatment strategies will be developed.

Papillon-Lefevre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis, leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome but a recent report has suggested that the condition is linked to mutations of the cathepsin C gene. Two cases of Papillon-Lefevre syndrome in the same family, having all of the characteristic features, are presented. An 11-year-old girl and a 9-year-old boy presented with the complaints of loose teeth. Both expressed hyperkeratosis of palms, soles, and knees. Severe generalized periodontal destruction, with mobility of teeth, was evident on intraoral examination; orthopantomograph examination showed severe generalized loss of alveolar bone in both the patients.

Papillon-Lefevre syndrome (PLS) is a rare autosomal, recessive condition characterized by hyperkeratosis of palms and soles of the feet and elbows and by rapid formation of periodontitis and hypermobility, migration and exfoliation of the teeth of primary and permanent dentition. The purpose of this report was to describe the case of an 8-year-old boy who presented to the Department of Oral Diagnosis and Radiology of Faculty of Dentistry of Ondokuz Mayis University with a chief complaint of mobility and rapid loss of teeth. Hyperkeratosis of palms and soles were realized. His gingivae were hyperemic and edematous, and the teeth were mobile. Histopathological examination of the specimen taken from the thickened skin was reported to be consistent with PLS. All teeth with poor prognosis were extracted and extensive periodontal therapy was administered, and a special denture was constructed.

Papillon-Lefèvre syndrome (PLS) is a rare autosomal-recessive genodermatosis characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is quite rare. Here, we report on a 51-year-old Japanese woman with PLS associated with recurrent malignant melanoma (MM). Mutation analysis of the cathepsin C gene revealed that the proband was homozygous for a missense mutation, c.415G-->A, which is predicted to result in the amino acid substitution p.G139R. Including our case, 4 families have been described as having PLS with MM, 3 of which are Japanese, implying a high incidence of melanoma development in Japanese PLS patients. We suggest that hereditary palmoplantar keratoderma (PPK) in Japanese patients might be predisposed to MM. A literature review revealed that in 18 cases of MM-associated PPK, 13 (76%) were Japanese, suggesting a high incidence of MM in Japanese PPK patients. This tendency might be attributable to the high frequency of acral lentiginous melanoma in Japanese subjects, in contrast to a lower frequency of this subtype in Caucasians., (Copyright 2008 S. Karger AG, Basel.)

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.

This case report describes the periodontal management, therapeutic approach, and 14-year follow-up of a patient diagnosed with Papillon-Lefevre syndrome (PLS). A female child, diagnosed with PLS-associated periodontitis at the age of 9 years and 11 months, presented with hyperkeratosis of the palms and soles, as well as generalized aggressive periodontitis. The dental treatment comprised standard periodontal debridement, scaling and root planing, instructions on oral hygiene, restorations, extraction of hopelessly affected teeth and a therapeutic use of antibiotics. The concomitant supportive periodontal therapy and antibiotic coverage could not stop the loss of periodontal attachment and destruction of the alveolar bone. Four years after treatment was initiated, the last remaining teeth were extracted and complete dentures were constructed. The dentures have been periodically replaced and the patient continues to return for follow-up once a year. The combination of intensive periodontal treatment and antibiotic regimen only temporarily delayed periodontal disease progression and did not prevent loss of both primary and permanent teeth. The outcome of this long-term follow-up case report shows that management of PLS-associated periodontitis is further complicated when the patient is first seen in the mixed dentition stage or later. In these situations, the chances of controlling the progression of periodontal breakdown and minimizing tooth loss are greatly reduced.

A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis--in some cases related to the presence of plaque and/or specific bacteria (severe congenital neutropenia or infantile genetic agranulocytosis, Chediak-Higiashi syndrome, Down syndrome and Papillon-Lefévre syndrome). In the presence of humoral immune alterations, periodontal damage may result indirectly as a consequence of alterations in other systems. In connective tissue disorders, bacterial plaque and alterations of the periodontal tissues increase patient susceptibility to gingival inflammation and alveolar resorption (Marfan syndrome and Ehler-Danlos syndrome). The management of periodontal disease focuses on the control of infection and bacterial plaque by means of mechanical and chemical methods. Periodontal surgery and even extraction of the most seriously affected teeth have also been suggested. There are variable degrees of consensus regarding the background systemic disorder, as in the case of Chediak-Higiashi syndrome, where antibiotic treatment proves ineffective; in severe congenital neutropenia or infantile genetic agranulocytosis, where antibiotic prophylaxis is suggested; and in Papillon-Lefévre syndrome, where an established treatment protocol is available.

Papillon-Lefévre syndrome (PLS) is characterized by severe periodontal disease extending to destruction of the alveolar bone surrounding deciduous teeth and palmoplantar hyperkeratosis of the skin. Increased susceptibility to infection has been reported among individuals with the cathepsin C (CTSC) gene mutation. This article reports a 7-year-old Japanese girl who presented with deciduous tooth mobility and was diagnosed as having PLS. Radiographic examination revealed loosening of deciduous incisors and the right second molar of the maxilla, and destruction of the alveolar bone around the residual deciduous dentition. However, there was no destruction of the alveolar bone around the permanent molars. The patient did not show the typical signs of CTSC polymorphism, which almost always negatively impacts certain activating enzymes. With respect to immune function, analysis of the patient's leukocytes indicated that H(2)O(2), chemotactic and phagocytotic functions were within the normal range. However, the special precautions normally applied to prevent infections in PLS patients undergoing dental treatment were taken.

We describe a 7-year-old boy with classic dental and dermatologic findings of Papillon-Lefère syndrome. In addition to these manifestations, he had bilateral, almost symmetric, hypertrophic-looking corneal leukoma. This case demonstrates that patients with Papillon-Lefèvre syndrome should undergo ophthalmologic examination in addition to frequent dental examination.

Papillon-Lefevre syndrome (PLS) is an autosomally recessive palmoplantar keratoderma accompanied by psoriasiform plaques on the extensor surfaces of extremities and leading to premature loss of deciduous and permanent teeth by progressive periodontitis. Patients with PLS may exhibit mental retardation, intracranial ectopic calcifications, nail dystrophies and a tendency to various infectious disorders, in addition to skin and oral findings. Herein, we report a 26-year-old man with PLS, who had experienced xanthogranulomatous pyelonephritis and hepatitis during childhood and adolescence. To the best of our knowledge, this is the first report of PLS associated with xanthogranulomatous inflammation.

Background: Papillon-Lefèvre syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset of destructive periodontitis leading to premature loss of both primary and permanent dentitions. The etiopathogenesis of the condition suggests that there is a genetic basis for susceptibility to specific virulent pathogens. Variation in the clinical presentation of PLS has recently been observed., Objective: The objective was to present the first report, which describes the concurrence of PLS and albinism. The etiology, pathology, and management of the condition were reviewed and genetic analysis was performed. SUBJECTS AND CLINICAL PRESENTATION: The probands are Jordanian brothers aged 13 and 20 years on their initial presentation. The parents were second cousins and not affected. The patients exhibited the typical clinical features of PLS with type 1 oculocutaneous albinism (OCA1). They also had increased susceptibility to infection manifested in recurrent tonsillitis, respiratory tract infection, pyoderma, onychogryphosis, and other pathosis. Skin biopsy demonstrated hyperkeratosis, focal parakeratosis, hypergranulosis, and acanthosis. Ectopic calcification of the dura was noticed in one of the probands. Hematological parameters tested were within the normal limits. The probands were tested for mutations in the causative genes of PLS and OCA1, cathepsin C (CTSC), and tyrosinase, respectively. Independent mutations (c.318-1G>A and c.817G>C/p.W272C) were identified in CTSC and tyrosinase, respectively. The probands were homozygous and their sister who had only PLS was homozygous for the same (CTSC) mutation but heterozygous for tyrosinase gene., Conclusion: We hope that this report of coinheritance PLS and albinism will initiate further investigations to disclose other possible variations that may enhance our knowledge on gene mutations of this intriguing syndrome.

Background: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive condition manifested clinically by hyperkeratosis of the palms and soles and rapidly progressive periodontitis resulting in loss of deciduous and permanent teeth. This case report describes the clinical periodontal findings and treatment of a 10-year-old male patient with PLS. The patient provided informed consent, and the study was conducted in accordance with the Helsinki Declaration of 1975, as revised in 2000., Methods: Upon initial presentation, a full periodontal examination was completed. Conventional probing depths, clinical attachment levels (CAL), gingival index (GI), and plaque index (PI) were measured prior to initial therapy, which involved oral hygiene instruction and scaling and root planing. At reevaluation, initial treatment proved unsuccessful, and a surgical approach with concomitant systemic antibiotic therapy was implemented. In addition, the patient's dermatologist treated his palmoplantar keratoderma with systemic retinoids. Subsequently, the patient was placed on a strict 3-month maintenance protocol and was evaluated over a period of 1 year., Results: Initial treatment with mechanical therapy, oral hygiene instruction, frequent recalls, and systemic antibiotics did not yield efficacious results. However, with the addition of surgical treatment, a favorable clinical outcome was obtained., Conclusions: Numerous treatment regimens for the periodontal disease seen in PLS can be found in the literature. We demonstrate successful treatment of the periodontal disease seen in this condition using mechanical therapy, systemic antibiotics, and surgical modalities; over a period of 1 year, we were able to achieve significant reductions in gingival inflammation and erythema.

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-Lefèvre 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.

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.