Recent developments in the diagnosis, treatment, and management of Papillon-Lefèvre Syndrome.

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.

Postoperative chronic pain in arthroplasty papillon-lefèvre syndrome: 17-year dental follow-up: case report / Síndrome de papillon-lefèvre: seguimiento dental de 17 años: reporte de caso

Introduction: The present report describes the case of a 12-year-old patient with 17-year follow-up who was previously diagnosed with Papillon-Lefèvre Syndrome (PLS), which is a rare autosomal recessive irregularity in the cathepsin C gene (CTSC) characterized by palmoplantar hyperkeratosis and premature loss of primary and permanent teeth. Case Report: A specific mutation in the c.203 T > G gene inducing loss of function leading to PLS was detected, as was a mutation in the HLA-DRB1*11 allele, which is associated with this syndrome. There is no consanguinity of the parents, and the siblings are entirely healthy. Early identification of the main characteristics of this syndrome is imperative. Accurate diagnosis by genetic analysis allows differential diagnoses and timely comprehensive dental treatment. Conclusions: Additionally, it allows consultation with a dermatologist to maintain or improve the quality of life of patients with this condition due to progressive worsening and severity of the main physical manifestations. Keywords: Papillon-Lefevre Disease; Keratoderma, Palmo-plantar; Cathepsin C; Periodontitis; Skin Diseases, Genetic; Case reports

Introducción: El presente reporte describe el caso de un paciente de 12 años de edad con 17 años de seguimiento a quien previamente se le diagnosticó Síndrome de Papillon-Lefèvre (PLS), el cual es una rara irregularidad autosómica recesiva en el gen de la catepsina C (CTSC) caracterizada por hiperqueratosis palmoplantar y pérdida prematura de dientes primarios y permanentes. Reporte de Caso: Se detectó una mutación específica en el gen c.203 T > G que induce pérdida de función que conduce a PLS, así como una mutación en el alelo HLA-DRB1*11, que se asocia a este síndrome. No presenta consanguinidad de los padres, padres y hermanos totalmente sanos. La identificación temprana de las principales características de este síndrome es imperativa. El diagnóstico certero por análisis genético permite diagnósticos diferenciales y tratamientos odontológicos integrales oportunos. Conclusiones: Adicionalmente, permite la consulta con un dermatólogo para mantener o mejorar la calidad de vida de los pacientes con esta condición debido al progresivo empeoramiento y severidad de las principales manifestaciones físicas.

Papillon-Lefèvre syndrome: Oral aspects and treatment.

Papillon-Lefèvre syndrome (PLS) is a rare disorder characterized by diffuse palmoplantar erythematous, fissured hyperkeratosis, and aggressive periodontal disease that starts in the early periods of childhood. Periodontal disease occurs with the early loss of deciduous teeth at the age of 2 to 4 years, followed by the loss of permanent teeth during adolescence. Prosthodontics management of PLS patients is very complex and sometimes requires invasive therapeutic treatments. Early diagnosis is essential for correct treatment management avoiding the possibility that patients are early edentulous. Management could be a conventional periodontal treatment and pharmacological therapy but in severe cases, digital techniques, could be help the clinician for increased patient comfort and minimized tissue damage.

[Papillon-Lefèvre syndrome: A new case]. / Le syndrome de Papillon-Lefèvre, à propos d'une nouvelle observation.

Papillon-Lefèvre syndrome (PLS) is a rare primary immunodeficiency, which combines severe periodontal disease with edentulism and palmoplantar keratosis (PPK). PLS is inherited as an autosomal recessive trait and is due to mutations in the cathepsin C gene. The biological properties of the neutrophils (PN) are altered, leading to a gingival dysbiosis and bacterial overgrowth, with intense inflammation of the periodontium. We report the observation of a 4-year-old girl who presented to the clinic with gingivitis, partial edentulism, and PPK, whose diagnosis, raised after a long delay, was suggested by null cathepsin C activity and confirmed by the presence of heterozygous mutations in exon 4: c.628C>T, pArg210* and in exon 7: c.1286G>A, p.Trp429*. A multidisciplinary approach transformed the functional and esthetic prognosis and psychological behavior of this child. This classical observation describes this poorly known phenotype.

Combined orthodontic and periodontic treatment in a child with Papillon Lefèvre syndrome.

A 9-year-old girl with Papillon-Lefèvre syndrome (PLS) was treated orthodontically 24 months after the start of mechanical and antibiotic therapy in adjunct with periodontal treatment every 6 weeks. After achieving stable periodontal conditions, orthodontic treatment was commenced to correct the teeth position, facial profile, and maxillary protraction. Following the combination therapy and a failure to detect Actinobacillus actinomycetemcomitans from any site in the oral cavity, orthodontic treatment with a fixed appliance was performed aside from creating space for eruption of permanent teeth. We found that combined periodontal and orthodontic treatment of PLS may be successful with a complex interdisciplinary regimen and close follow up. This is a 2-year follow-up case report of a girl with PLS. Orthodontic and periodontic therapy were offered using combined treatments of orthodontic and periodontal with the benefit of prosthodontic consultation, resulting in a treatment plan.

Multiple cerebral abscesses in Papillon-Lefèvre syndrome.

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.

Papillon-Lefevre syndrome.

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+.

Eponym: Papillon-Lefevre syndrome.

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.

Keratosis palmoplantaris associated with early-onset periodontitis: a case report.

Keratosis palmoplantaris associated with periodontopathy or Papillon Lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8-year old male child diagnosed with this syndrome is discussed.

Keratosis palmoplantaris associated with early-onset periodontitis: a case report / Queratosis palmoplantar asociada con periodontitis incipiente: reporte de un caso

Keratosis palmoplantaris associated with periodontopathy or Papillon Lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8-year old male child diagnosed with this syndrome is discussed.

La queratosis palmoplantar asociada con la periodontopatía - también conocida como síndrome de Papillon Léfèvre - es un trastorno genético muy poco común, con un modo de herencia autosómico recesivo. Se caracteriza por la hiperqueratosis de las palmas de las manos y las plantas de los pies y el inicio temprano de una periodontitis destructiva severa. Se analiza la presentación clínica, el diagnóstico diferencial, así como el tratamiento terapéutico y periodontal de un niño de 8 años de edad con este síndrome.

Dental implants in a young patient with Papillon-Lefevre syndrome: a case report.

A case is reported of dental implant placement in a 13-year-old patient diagnosed with Papillon-Lefevre Syndrome. Two titanium dental implants were placed in the mandible for an implant-retained denture after the patient complained of having an unstable prosthesis. Follow-up radiographs showed successful osseointegration and preservation of alveolar bone 1 year after implant placement and the continual wearing of a functional dental prosthesis.

Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome.

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.

Papillon Lefevre syndrome: management of a case.

Papillon Lefevre Syndrome is a rare syndrome autosomal recessive in nature, manifesting as keratosis palmoplantaris with periodontitis. A case of Papillon Lefevre Syndrome present in a 12 year old boy is presented. Only the permanent maxillary canines were present in the oral cavity when the patient was first seen, and despite efforts towards preservation, they had to be extracted. (complete dentures were made and the patient was followed up for 26 months.

[The Papillon-Lefèvre syndrome. A clinical and ultrastructural study of 2 cases]. / Sindrome di Papillon-Lefèvre. Studio clinico e ultrastrutturale su due casi.

Two cases of Papillon-Lefèvre syndrome, a rare hereditary affection of unknown etiology, whose clinical signs are hyperkeratosis palmoplantaris and parodontitis, are described. The results obtained with the ultrastructural examination of the lesions are shown. A therapeutic protocol which can reduce the evolution of the pathology, is also suggested.

Follow-up of two cases of Papillon-Lefèvre syndrome and presentation of two new cases.

Periodontitis resulting from Papillon-Lefèvre Syndrome has been known to cause early loss of primary dentition with subsequent involvement of the permanent dentition. In this study, two Papillon-Lefèvre Syndrome patients were followed for 3 years after initial treatment and improvement of their periodontal condition. In addition, two new cases of Papillon-Lefèvre Syndrome are presented. The follow-up treatment of the first two patients included monitoring the oral hygiene and performing ultrasonic scaling. Their present clinical appearance is very satisfactory. The periodontal condition of the third (new) patient was brought under control by extracting the involved deciduous teeth under antibiotic coverage, and by scaling and root planing the already erupted permanent teeth as well as by maintaining a high standard of oral hygiene. In the fourth case, all permanent teeth had erupted and the periodontium had already been severely destroyed. Actinobacillus actinomycetemcomitans was not detected by microbiologic examination after the periodontal conditions improved, except in the fourth case. Western blot analysis showed that the three first three patients had positive antibody response to the same antigens of Actinobacillus actinomycetemcomitans. Phagocytosis by polymorphonuclear neutrophil leukocytes) had not decreased, but the expression of surface receptors of polymorphonuclear neutrophil leukocytes was within the normal limits.

Papillon-Lefèvre syndrome--successful treatment with a combination of retinoid and concurrent systematic periodontal therapy: case reports.

Papillon-Lefevre syndrome is a rare autosomal-recessive congenital differentiation disorder; the external signs are hyperkeratosis of the palms and soles. Intraorally, the most salient manifestations are dystrophic periodontal problems that affect both the primary and permanent dentitions and frequently lead to premature tooth loss. Two children were treated with acitretin 0.5 mg/kg of body weight per day from November 1992 to November 1993, and another child since October 1993. Concurrently, the children received professional oral hygiene care (scaling, root planing, and curettage). The combination of retinoid therapy and periodontal treatment improved the dermatologic and periodontal conditions.

Papillon-Lefèvre syndrome associated early onset periodontitis: a review and case study.

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.