A síndrome de Papillon-Lefevre (SPL) é uma displasia ectodérmica rara caracterizada por ceratodermia palmoplantar associada à periodontite de início precoce.
Introdução
O que você precisa saber de cara
A síndrome de Papillon-Lefevre (SPL) é uma displasia ectodérmica rara caracterizada por ceratodermia palmoplantar associada à periodontite de início precoce.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Thiol protease (PubMed:1586157). Has dipeptidylpeptidase activity (PubMed:1586157). Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids (PubMed:1586157). Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate (PubMed:1586157). Can act as both an exopeptidase and endopeptidase (PubMed:1586157). Activates serine proteases such as elastase, cathepsin G and granzymes A and B (PubMed:8428921)
Lysosome
Papillon-Lefevre syndrome
An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees.
Variantes genéticas (ClinVar)
134 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 474 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Papillon-Lefèvre
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Papillon-Lefèvre syndrome with excellent response to risankizumab.
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis. It is clinically characterized by diffuse palmoplantar keratoderma (PPK), psoriasiform skin lesions, and rapidly progressive periodontopathy. Management of PLS can be challenging. Herein, we present the case of a 27-year-old female who experienced poor response to multiple therapies, including topical keratolytic creams, oral isotretinoin and acitretin, and the tumor necrosis factor (TNF) inhibitor adalimumab. Notably, she achieved complete resolution of her cutaneous manifestations following treatment with the interleukin (IL)-23 inhibitor risankizumab.
Papillon-Lefèvre Syndrome Unmasked by Atypical Cat Scratch Disease.
Clinical characteristics of Papillon-Lefèvre syndrome: A KSA perspective.
Papillon-Lefèvre syndrome (PLS) has a higher prevalence in the Kingdom of KSA (KSA) compared to many other parts of the world. Few case reports and case series have been reported from the KSA. The clinical characteristics of cases reported vary in severity and presentation. Variation in cases may involve differences in periodontal involvement and/or skin manifestation and other systemic involvement. Depending on the severity of periodontal involvement, treatment varies from oral hygiene instructions to implant placement for replacement of missing teeth in restoring esthetics. Studying the details of each case may help better manage PLS. An attempt was made to study all of the cases reported in the Saudi population to assess the clinical characteristics variation and treatment rendered. This compilation of cases could serve as a valuable resource and guiding source for dentists in KSA for the better management of patients diagnosed with PLS. تعتبر متلازمة بابيلون-ليفيفر أكثر انتشارا في المملكة العربية السعودية مقارنة بمناطق أخرى من العالم. ولم تبلغ سوى عن عدد قليل من تقارير الحالات وسلاسل الحالات من المملكة. وتختلف الخصائص السريرية للحالات المبلغ عنها من حيث شدتها وأعراضها. وقد يشمل التباين في الحالات اختلافات في إصابة اللثة و/أو المظاهر الجلدية، بالإضافة إلى إصابات جهازية أخرى. وبناء على شدة إصابة اللثة، يتراوح العلاج بين تعليمات نظافة الفم وزراعة الأسنان لتعويض الأسنان المفقودة في استعادة الجماليات. وقد تساعد دراسة تفاصيل كل حالة على تحسين إدارة متلازمة بابيلون-ليفيفر. وقد بذلت محاولة لدراسة جميع الحالات المبلغ عنها في المجتمع السعودي لتقييم تباين الخصائص السريرية والعلاج المقدم. ويمكن أن تشكل هذه المجموعة من الحالات موردا قيما ومصدرا إرشاديا لأطباء الأسنان في المملكة العربية السعودية لتحسين إدارة المرضى المشخصين بمتلازمة بابيلون-ليفيفر.
Secukinumab and Upadacitinib Treatment for Papillon-Lefèvre Syndrome in 2 Cases.
This case report describes 2 patients with Papillon-Lefèvre syndrome whose symptoms improved with secukinumab and upadacitinib treatment.
Dental management of a young patient with Papillon-Lefèvre syndrome.
This report presents the case of a girl in early adolescence with symptoms suggestive of Papillon-Lefèvre syndrome (PLS) who remained undetected with poorly managed periodontitis until the advanced stage of alveolar resorption, leading to multiple tooth loss due to periodontitis. All remaining teeth had grade III mobility and negligible alveolar support, necessitating extraction. Conventional complete dentures were provided for functional and aesthetic rehabilitation. The literature review conducted to evaluate various dental treatment strategies and their outcomes for patients diagnosed with PLS at the deciduous or mixed dentition stage indicates that periodontal debridement with regular supportive periodontal therapy, antibiotic regimens and oral hygiene maintenance reinforcement can preserve teeth until late adolescence.
Publicações recentes
Patient-Specific Implants as a Treatment of Oral Manifestations of Aggressive Periodontitis Accompanying Papillon-Lefèvre Syndrome. A Case Report.
A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.
Papillon-Lefèvre syndrome with excellent response to risankizumab.
📖 RevisãoDifferences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.
Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.
📚 EuropePMC463 artigos no totalmostrando 117
Papillon-Lefèvre syndrome with excellent response to risankizumab.
Dermatology reportsDifferences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.
BiomedicinesAtypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.
Reports (MDPI)Papillon-Lefèvre Syndrome: Case Report of Two Sisters.
International journal of clinical pediatric dentistryPapillon-Lefèvre Syndrome Unmasked by Atypical Cat Scratch Disease.
The Pediatric infectious disease journalPeriodontal Manifestations of Systemic Diseases.
Journal of periodontal researchDipeptidyl peptidase 1 inhibitors for inflammatory respiratory diseases: mechanisms, clinical trials, and therapeutic prospects.
Frontiers in pharmacologyClinical characteristics of Papillon-Lefèvre syndrome: A KSA perspective.
Journal of Taibah University Medical SciencesSecukinumab and Upadacitinib Treatment for Papillon-Lefèvre Syndrome in 2 Cases.
JAMA dermatologyInhibition of CTSC contributes to psoriasis inflammation and keratinocyte hyperproliferation by NF-κB signaling pathway.
International immunopharmacologyTriangular Lunulae in Papillon-Lefèvre Syndrome: A Case Report.
Clinical case reportsDental management of a young patient with Papillon-Lefèvre syndrome.
BMJ case reportsPapillon-Lefèvre syndrome: palmoplantar keratoderma with teeth abnormalities.
Clinical and experimental dermatologyPapillon-Lefevre syndrome: Case series.
Journal of oral and maxillofacial pathology : JOMFPA Japanese case of Papillon-Lefèvre syndrome diagnosed by pyogenic liver abscess.
The Journal of dermatologyThe di-leucine motif in the host defense peptide LL-37 is essential for initiation of autophagy in human macrophages.
Cell reportsPharmacological inhibition of cathepsin S and of NSPs-AAP-1 (a novel, alternative protease driving the activation of neutrophil serine proteases).
Biochemical pharmacologyCathepsin C in health and disease: from structural insights to therapeutic prospects.
Journal of translational medicineSkeletal indicators of pathology in the context of early tooth loss in children: A systematic literature review.
International journal of paleopathologyPapillon-Lefèvre syndrome in dental pediatric patient: A comprehensive review.
The Saudi dental journalSelf-reported clinical features and treatment effectiveness of Papillon-Lefèvre syndrome patients from five Latin American countries: A cross-sectional online survey study.
The Australasian journal of dermatologyThe oral microbiome of a family including Papillon-Lefèvre-syndrome patients and clinically healthy members.
BMC oral healthPapillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
Archives of oral biologyRecalcitrant skin ulcers in a patient with Papillon-Lefèvre syndrome: an unusual novel presentation.
Clinical and experimental dermatologyIdentification of a novel frameshift mutation in cathepsin C gene in a patient with coexisting Papillon-Lefevre syndrome and rheumatoid arthritis.
Journal of the European Academy of Dermatology and Venereology : JEADVRole of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.
The British journal of dermatologyCathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders.
BiochimiePossible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefèvre syndrome.
The British journal of dermatologyDiagnosis and Management of Papillon-Lefevre Syndrome: A Rare Case Report and a Brief Review of Literature.
CureusRecent developments in the diagnosis, treatment, and management of Papillon-Lefèvre Syndrome.
Evidence-based dentistryOral Rehabilitation of a Patient with Papillon Lefèvre Syndrome Using Fixed Full-Arch Hybrid Prostheses Supported by Four Axially Loaded Implants: A Case Report with Four-Year Follow-up.
Frontiers in dentistryMultidisciplinary management of Papillon-Lefevre syndrome as a result of consanguineous marriage.
BMJ case reportsSubsiding of Periodontitis in the Permanent Dentition in Individuals with Papillon-Lefèvre Syndrome through Specific Periodontal Treatment: A Systematic Review.
Healthcare (Basel, Switzerland)Oral Juvenile Xanthogranuloma: a case report of gingival hyperplasia and osteolysis in male adult patient.
BMC oral healthDimethyl fumarate for treating Papillon-Lefèvre syndrome.
JAAD case reportsCase report: Corticosteroids as an adjunct treatment for the management of liver abscess in Papillon-Lefèvre syndrome: A report on two cases.
Frontiers in pediatricsAbnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.
European journal of medical geneticsPapillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature.
CureusFixed prosthetic rehabilitation of a patient with Papillon-Lefevre syndrome supported by a Quad Zygoma Approach: A clinical report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryLong-Term Results after Placing Dental Implants in Patients with Papillon-Lefèvre Syndrome: Results 2.5-20 Years after Implant Insertion.
Journal of clinical medicinePremature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
International journal of environmental research and public healthTargeting Cathepsin C in PR3-ANCA Vasculitis.
Journal of the American Society of Nephrology : JASNA rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function.
PloS onePapillon-Lefevre syndrome treated by acitretin: case report and cytokine profile.
Journal of the European Academy of Dermatology and Venereology : JEADVThe first case report of Haim Munk disease with neurological manifestations and literature review.
Clinical case reportsOral Phenotype and Salivary Microbiome of Individuals With Papillon-Lefèvre Syndrome.
Frontiers in cellular and infection microbiologyNovel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome.
Annals of dermatologySurvival Rates of Dental Implants in Patients with Papillon-Lefévre Syndrome: A Systematic Review.
The journal of contemporary dental practiceA novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.
Clinical and experimental dental researchTwo patients with Papillon-Lefèvre syndrome without periodontal involvement of the permanent dentition.
The Journal of dermatologyPotential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre.
Antioxidants (Basel, Switzerland)Diagnosis of Papillon-Lefèvre syndrome: review of the literature and a case report.
Postepy dermatologii i alergologiiDental prosthetic rehabilitation of Papillon-Lefèvre syndrome: a case report.
Clinics and practiceOral rehabilitation of Papillon-Lefèvre syndrome patients by dental implants: a systematic review.
Journal of the Korean Association of Oral and Maxillofacial SurgeonsCathepsin G and its Dichotomous Role in Modulating Levels of MHC Class I Molecules.
Archivum immunologiae et therapiae experimentalisLung Protection by Cathepsin C Inhibition: A New Hope for COVID-19 and ARDS?
Journal of medicinal chemistryPapillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.
Molecular biology reportsJapanese case of Papillon-Lefèvre syndrome with novel compound heterozygous mutations.
The Journal of dermatologyPapillon-Lefèvre syndrome: Oral aspects and treatment.
Dermatologic therapyMissense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.
Annals of dermatologyA Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report.
CureusIdentification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.
Clinical and experimental dermatologyPapillon Lefevre Syndrome.
La Tunisie medicalePalmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
American journal of medical genetics. Part AA New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre Syndrome.
Journal of investigational allergology & clinical immunologyCu-sil dentures: A novel approach of Papillon-Lefèvre syndrome management.
Journal of the Indian Society of Pedodontics and Preventive DentistryDigital prosthodontic management of a young patient with Papillon-Lefèvre syndrome: A clinical report.
The Journal of prosthetic dentistryClinical and molecular analysis in Papillon-Lefèvre syndrome.
American journal of medical genetics. Part APapillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study.
Case reports in oncologyPapillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report.
Case reports in dentistryExome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.
Journal of human geneticsCTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.
Oral diseases[Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyPapillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature.
International journal of clinical pediatric dentistryCase Report: Clinical manifestation and dental management of Papillon-Lefèvre syndrome.
F1000Research[Papillon-Lefevre syndrome complicated with liver abscess].
Zhonghua er ke za zhi = Chinese journal of pediatricsPapillon-Lefèvre syndrome.
Anais brasileiros de dermatologiaAggregated neutrophil extracellular traps resolve inflammation by proteolysis of cytokines and chemokines and protection from antiproteases.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyA Rare Presentation of Psychotic Depression with Suicidality in a Case of Papillon-Lefèvre Syndrome.
Indian journal of psychological medicinePeriodontal manifestations of systemic diseases and developmental and acquired conditions: Consensus report of workgroup 3 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Journal of periodontologyConsequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.
The Journal of biological chemistryTherapeutic targeting of cathepsin C: from pathophysiology to treatment.
Pharmacology & therapeuticsPapillon-Lefevre Syndrome: A case report.
Medicina clinicaAutophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment.
The Journal of allergy and clinical immunologyA Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World.
Iranian journal of child neurologyCould Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome?
Journal of pediatric geneticsFull-Mouth Rehabilitation with Calvarium Bone Grafts and Dental Implants for a Papillon-Lefèvre Syndrome Patient: Case Report.
The International journal of oral & maxillofacial implantsJanus-Faced Neutrophil Extracellular Traps in Periodontitis.
Frontiers in immunologyPapillon-Lefèvre syndrome: A series of three cases in the same family and a literature review.
Quintessence international (Berlin, Germany : 1985)Anesthesia Management of a Patient with Papillon-Lefevre Syndrome: A Case Report.
Anesthesiology and pain medicineOcular Surface Squamous Neoplasia in Papillon-Lefèvre Syndrome: Outcome at Long-Term Follow-Up of 12 Years.
CorneaPhenol-Soluble Modulin α Peptide Toxins from Aggressive Staphylococcus aureus Induce Rapid Formation of Neutrophil Extracellular Traps through a Reactive Oxygen Species-Independent Pathway.
Frontiers in immunology[Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology[Papillon-Lefèvre syndrome: A new case].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieProlonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases.
Biochemical pharmacologyOro-dental characteristics of three siblings with Papillon-Lefevre syndrome.
Nigerian journal of clinical practiceInherited diseases caused by mutations in cathepsin protease genes.
The FEBS journalPapillon-Lefevre Syndrome: Prosthodontic Rehabilitation of Oral Function.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPStimulus-dependent NETosis by neutrophils from a Papillon-Lefèvre Syndrome patient.
Journal of the European Academy of Dermatology and Venereology : JEADVPapillon-Lefèvre syndrome: a series of five cases among siblings.
Journal of medical case reportsWhole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Saudi journal of biological sciences[Oral status of a child with Papillon-Lefevre syndrome: over 10-year follow-up].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyPrimary immunodeficiencies associated with eosinophilia.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyPapillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.
International journal of dermatology[Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCharacterization of neutrophil function in Papillon-Lefèvre syndrome.
Journal of leukocyte biologyPapillon-Lèfevre syndrome with palmoplantar keratoderma and periodontitis, a rare cause of pyrexia of unknown origin: a case report.
Journal of medical case reportsAnalysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.
The FEBS journalA novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.
Journal of periodontal researchPeriodontal Manifestations of Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE) Syndrome in an 11-Year-Old Patient.
Clinical advances in periodonticsCombined orthodontic and periodontic treatment in a child with Papillon Lefèvre syndrome.
Saudi medical journalOne mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.
Clinical and experimental dermatologyPapillon-Lefèvre syndrome: clinical presentation and management options.
Clinical, cosmetic and investigational dentistryPapillon-Lefevre Syndrome In An Adolescent Female: A Case Study.
Journal of clinical and diagnostic research : JCDRProcessing of Neutrophil α-Defensins Does Not Rely on Serine Proteases In Vivo.
PloS onePapillon-lefevre syndrome: review of literature and report of three cases in the same family.
The Nigerian postgraduate medical journalProxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
PloS oneAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Papillon-Lefèvre syndrome with excellent response to risankizumab.
- Papillon-Lefèvre Syndrome Unmasked by Atypical Cat Scratch Disease.
- Clinical characteristics of Papillon-Lefèvre syndrome: A KSA perspective.
- Secukinumab and Upadacitinib Treatment for Papillon-Lefèvre Syndrome in 2 Cases.
- Dental management of a young patient with Papillon-Lefèvre syndrome.
- Patient-Specific Implants as a Treatment of Oral Manifestations of Aggressive Periodontitis Accompanying Papillon-Lefèvre Syndrome. A Case Report.
- A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.
- Differences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.
- Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:678(Orphanet)
- OMIM OMIM:245000(OMIM)
- MONDO:0009490(MONDO)
- GARD:3100(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q2050791(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
