Papillon-lefevre syndrome: Case series and review of literature

Bhavsar, Margi V; Brahmbhatt, Nilam; Sahayata, Vishal N; Bhavsar, Neeta

doi:10.4103/0972-124x.124530

Cited by 11 publications

(16 citation statements)

References 28 publications

(41 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PLS is a hereditary autosomal recessive and rare condition that affects one to four people per million ( Hart and Shapira, 1994 ). Generally, consanguineous marriages are PLS individuals’ origin ( Bhavsar et al., 2013 ; Bullón et al., 2018 ). It was estimated that over one billion people live in countries where consanguineous marriages are customary ( Hamamy et al., 2011 ).…”

Section: Introductionmentioning

confidence: 99%

Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome

Lettieri

Santiago

Lettieri³

et al. 2021

Front. Cell. Infect. Microbiol.

View full text Add to dashboard Cite

Papillon–Lefèvre syndrome (PLS) is an autosomal recessive rare disease, main characteristics of which include palmoplantar hyperkeratosis and premature edentulism due to advanced periodontitis (formerly aggressive periodontitis). This study aimed to characterize the oral phenotype, including salivary parameters, and the salivary microbiome of three PLS sisters, comparatively. Two sisters were toothless (PLSTL1 and PLSTL2), and one sister had most of the teeth in the oral cavity (PLST). Total DNA was extracted from the unstimulated saliva, and the amplicon sequencing of the 16S rRNA gene fragment was performed in an Ion PGM platform. The amplicon sequence variants (ASVs) were obtained using the DADA2 pipeline, and the taxonomy was assigned using the SILVA v.138. The main phenotypic characteristics of PLS were bone loss and premature loss of primary and permanent dentition. The PLST sister presented advanced periodontitis with gingival bleeding and suppuration, corresponding to the advanced periodontitis as a manifestation of systemic disease, stage IV, grade C. All three PLS sisters presented hyposalivation as a possible secondary outcome of the syndrome. Interestingly, PLST salivary microbiota was dominated by the uncultured bacteria Bacterioidales (F0058), Fusobacterium, Treponema, and Sulfophobococcus (Archaea domain). Streptococcus, Haemophilus, and Caldivirga (Archaea) dominated the microbiome of the PLSTL1 sister, while the PLSTL2 had higher abundances of Lactobacillus and Porphyromonas. This study was the first to show a high abundance of organisms belonging to the Archaea domain comprising a core microbiome in human saliva. In conclusion, a PLST individual does have a microbiota different from that of the periodontitis’ aggressiveness previously recognized. Due to an ineffective cathepsin C, the impairment of neutrophils probably provided a favorable environment for the PLS microbiome. The interactions of Bacteroidales F0058, Caldivirga, and Sulfophobococcus with the microbial consortium of PLS deserves future investigation. Traditional periodontal therapy is not efficient in PLS patients. Unraveling the PLS microbiome is essential in searching for appropriate treatment and avoiding early tooth loss.

show abstract

Section: Introductionmentioning

confidence: 99%

Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome

Lettieri

Santiago

Lettieri³

et al. 2021

Front. Cell. Infect. Microbiol.

View full text Add to dashboard Cite

show abstract

“…But, the process of gingivitis and periodontitis is usually repeated with eruption of permanent dentition, which results in exfoliation of permanent teeth without treatment. By the age of 14, most patients are usually edentulous ( 7 ). Dental implant-supported fixed prosthesis provides numerous advantages over the conventional denture in terms of cosmetics, functionality, longevity of the prosthesis, and patient satisfaction ( 8 ).…”

Section: Discussionmentioning

confidence: 99%

Anesthesia Management of a Patient with Papillon-Lefevre Syndrome: A Case Report

Iranpour

Mahmoodpoor

2016

Anesth Pain Med

View full text Add to dashboard Cite

IntroductionPapillon-Lefèvre syndrome (PLS) is a rare autosomal recessive trait; it often requires some interventions with general anesthesia because of the accompanied complications.Case PresentationWe report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia.ConclusionsThere are only a few studies about perioperative management of these patients; however, the anesthesiologists should consider a few important issues during pre-operative and intra-operative management.

show abstract

“…The exact pathogenesis behind PLS remains obscure, though a combination of genetic, immunologic, and microbiological bases has been proposed [ 12 ]. The evolving sophistication in genomic science has implicated the protein Cathepsin C as the key player underlying the pathogenesis of PLS.…”

Section: Discussionmentioning

confidence: 99%

“…The most complete defect in neutrophils in such patients is a distinct molecular defect of adhesion of leukocytes related to deficiency in CD11 molecule [ 8 ]. Therefore, a combined genetic, immunologic, and microbial pathway may be involved wherein mutation of Cathepsin C gene is responsible for the microbial induced inflammatory response [ 12 ]. As a result, it is likely that inflammatory infiltrate at local sites of periodontal infection is not under normal regulatory control, and accentuated influx of neutrophils and retention of inflammatory infiltrate and their proteases may play a significant role in continued periodontal destruction.…”

Section: Discussionmentioning

confidence: 99%

Papillion-Lefèvre Syndrome: Periodontists’ Perspective

Biraggari

Reddy

Sudhakar

et al. 2015

Case Reports in Dentistry

View full text Add to dashboard Cite

Papillion-Lefèvre Syndrome is a very rare disorder of autosomal recessive inheritance distinguished by palmar plantar hyperkeratosis and early onset of periodontitis affecting the dentition. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Cathepsin C gene is to be responsible for Papillion-Lefèvre Syndrome. The present case report describes a 13-year-old female, who visited the Department of Periodontology with the chief compliant of bleeding gums and loose teeth. She presented with the signs and symptoms of Papillion-Lefèvre Syndrome. The patient had premature shedding of her deciduous dentition. On clinical examination, extraorally, the patient presented with persistent thickening, flaking, and scaling of the skin of palms and soles. Her intraoral examination revealed gingival inflammation, abscess formation, and periodontal pockets. Her intraoral radiographs showed bone loss involving the central incisors and molars. The patient underwent periodontal therapy and is under maintenance.

show abstract

Papillon-lefevre syndrome: Case series and review of literature

Cited by 11 publications

References 28 publications

Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome

Oral Phenotype and Salivary Microbiome of Individuals With Papillon–Lefèvre Syndrome

Anesthesia Management of a Patient with Papillon-Lefevre Syndrome: A Case Report

Papillion-Lefèvre Syndrome: Periodontists’ Perspective

Contact Info

Product

Resources

About