Papillon–Lefèvre syndrome

Objectives: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder. These patients lose their teeth at a young age and are in need of prosthetic rehabilitation. The aim of this systematic review was to assess the success of dental implant placement in these patients. Materials and Methods: An electronic search was performed in PubMed Central, Scopus, and Web of Science using the keyword "Papillon-Lefèvre syndrome" AND "dental implant" OR "prosthodontics"...

Cathepsin G (CatG) is involved in controlling numerous processes of the innate and adaptive immune system. These features include the proteolytic activity of CatG and play a pivotal role in alteration of chemokines as well as cytokines, clearance of exogenous and internalized pathogens, platelet activation, apoptosis, and antigen processing. This is in contrast to the capability of CatG acting in a proteolytic-independent manner due to the net charge of arginine residues in the CatG sequence which interferes with bacteria...

Cathepsin C (CatC) is a cysteine dipeptidyl aminopeptidase that activates most of tissue-degrading elastase-related serine proteases. Thus, CatC appears as a potential therapeutic target to impair protease-driven tissue degradation in chronic inflammatory and autoimmune diseases. A depletion of proinflammatory elastase-related proteases in neutrophils is observed in patients with CatC deficiency (Papillon-Lefèvre syndrome). To address and counterbalance unwanted effects of elastase-related proteases, chemical inhibitors of CatC are being evaluated in preclinical and clinical trials...

Papillon Lefevre syndrome (PLS) manifests with palmoplantar keratoderma, combined with a rapidly progressive periodontitis associated with mutations in Cathepsin C (CTSC) gene. This article reports a 15-year old male proband with typical PLS traits having a novel compound heterozygote with p.Q49X mutation in exon 1 and p.Y259C missense mutation in exon 6 of CTSC gene respectively. The exon 1 mutation, p.Q49X, (found in proband's mother) was located in exclusion domain and exon 6 mutation, p.Y259C (found in proband's father), was present in peptidase C1A, papain C-terminal domain...

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...

Papillon-Lefèvre syndrome (PLS) is a rare genetic disease that causes dermatological and dental symptoms that usually start from early age. Dermatological findings include hyperkeratoderma over the palms and soles that are usually thought of as persistent psoriasis at first. Dental findings include severe caries in the teeth that lead to premature dental loss. We present a case of an otherwise healthy seven-year-old child with classical presentation of PLS with both dermatological and dental findings. He first presented to the dermatology clinic when he was five years old brought by his parents complaining of dry scaly patches on the palm of the hands and soles of the feet...

BACKGROUND: Papillon-Lefévre (PLS; OMIM 245000) and Haim-Munk syndromes (HMS; OMIM 245010), characterized by palmoplantar hyperkeratosis and periodontitis, are phenotypic variants of the same disease caused by mutations of the cathepsin C (CTSC) gene. AIM: To identify putative genetic modifying factors responsible for the differential development of the PLS or HMS phenotypes, we investigated two Hungarian patients suffering from different phenotypic variants (PLS and HMS) but carrying the same homozygous nonsense CTSC mutation (c...

No abstract text is available yet for this article.

Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia. We report the clinical findings of two Cambodian brothers who presented with diffuse, demarcated PPK with transgrediens extending to the elbows and knees, as well as pachyonychia and dental caries...

No abstract text is available yet for this article.

Papillon-Lefèvre syndrome (PLS) is a rare genetic disorder characterized by palmoplantar keratosis and premature loss of primary and permanent dentition. Its onset can be as early as 1-4 years of age. The genetic disorder is mutation in the cathepsin C gene. Hereby, we discuss the fabrication of Cu-sil dentures for the prosthetic rehabilitation of a 14-year-old girl with PLS. The case report describes the procedure and associated relevant information regarding the management protocols.

Cysteine cathepsin C (CatC) is a ubiquitously expressed, lysosomal aminopeptidase involved in the activation of zymogens of immune-cell-associated serine proteinases (elastase, cathepsin G, proteinase 3, neutrophil serine proteinase 4, lymphocyte granzymes, and mast cell chymases). CatC is first synthetized as an inactive zymogen containing an intramolecular chain propeptide, the dimeric form of which is processed into the mature tetrameric form by proteolytic cleavages. A molecular modeling analysis of proCatC indicated that its propeptide displayed a similar fold to those of other lysosomal cysteine cathepsins, and could be involved in dimer formation...

Papillon-Lefèvre syndrome (PLS) is a rare disorder that leads to symptoms including the early progressive loss of deciduous and permanent teeth. Prosthodontic management of children and adolescents affected by PLS sometimes requires an immediate complete denture. Tooth mobility presents a challenge to the dentist, especially during impression-making. This clinical report describes the management of a 14-year-old boy with PLS by using an intraoral scanner to prevent conventional impressions and a fully digital workflow for the design and fabrication of immediate complete dentures...

Papillon-Lefèvre syndrome (PLS; MIM#245000) is a rare recessive autosomal disorder characterized by palmar and plantar hyperkeratosis, and aggressively progressing periodontitis leading to premature loss of deciduous and permanent teeth. PLS is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. PLS clinical expressivity is highly variable and no consistent genotype-phenotype correlation has been demonstrated yet. Here we report the clinical and genetic features of five PLS patients presenting a severe periodontal breakdown in primary and permanent dentition, hyperkeratosis over palms and soles, and recurrent sinusitis and/or tonsillitis...

AIM: This paper revisits Papillon-Lefèvre syndrome (PLS), addresses its diagnostic update and dental management, and reports a case of a 5-year-old Lebanese patient with consanguineously married parents. BACKGROUND: PLS, also known as "keratoris palmoplantaris with periodontopathia" and "hyperkeratosis palmoplantaris with periodontosis," is an extremely rare autosomal-recessive trait that combines a diffuse palmoplantar hyperkeratosis and a severe generalized, progressive prepubertal form of a precocious form of juvenile, aggressive periodontitis...

Cathepsin C (CatC) is a cysteine protease involved in a variety of immune and inflammatory pathways such as activation of cytotoxicity of various immune cells. Homozygous or compound heterozygous variants in the CatC coding gene CTSC cause different conditions that have in common severe periodontitis. Periodontitis may occur as part of Papillon-Lefèvre syndrome (PLS; OMIM#245000) or Haim-Munk syndrome (HMS; OMIM#245010), or may present as an isolated finding named aggressive periodontitis (AP1; OMIM#170650)...

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...

OBJECTIVE: This study aimed to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS) and further confirm the genetic basis for the phenotype of PLS. METHODS: Peripheral blood samples were obtained from the PLS proband and his family members (his parents and younger brother) for genomic DNA extraction. The coding region and exon boundaries of the CTSC gene were amplified and sequenced by polymerase chain reaction and direct sequencing of DNA...

Papillon-Lefèvre is an autosomal recessive syndrome that starts in early periods of childhood. Characteristic features include palmar plantar hyperkeratosis, aggressive periodontal disease, and a tendency for dry and chopped skin, thin and sparse hair. Patients show signs of premature tooth loss at the age of 2 to 4 years, which is then followed by the loss of permanent dentition during adolescence. The presence of both skin and oral lesions in this syndrome differentiates this unusual genodermatosis from other pathology of palmoplantar keratoderma (PPK)...

Background: Papillon-Lefèvre syndrome (PLS) is considered a rare syndrome, which is characterized by the presence of palmar-plantar hyperkeratosis and aggressively progressing periodontitis that finally leads to premature loss of both deciduous and permanent teeth. Case report: A four-year-old Egyptian boy presented with a maternal complaint that her child suffers from early loss of many teeth, presence of loose teeth along with an asymptomatic swelling related to the upper anterior area. The patient was diagnosed with PLS...