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Síndrome Papillon-Lefèvre
ORPHA:678CID-10 · Q82.8CID-11 · EC20.30OMIM 245000DOENÇA RARA

A síndrome de Papillon-Lefevre (SPL) é uma displasia ectodérmica rara caracterizada por ceratodermia palmoplantar associada à periodontite de início precoce.

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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.

Publicações científicas
545 artigos
Último publicado: 2026 Apr

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.25
Worldwide
Início
Childhood
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q82.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
8 sintomas
🦴
Ossos e articulações
3 sintomas
🦷
Dentes
2 sintomas
💪
Músculos
1 sintomas
🧠
Neurológico
1 sintomas
🫘
Rins
1 sintomas

+ 14 sintomas em outras categorias

Características mais comuns

90%prev.
Pústula
Muito frequente (99-80%)
90%prev.
Periodontite grave
Muito frequente (99-80%)
90%prev.
Agenesia dentária
Muito frequente (99-80%)
90%prev.
Anormalidade da dentição
Muito frequente (99-80%)
90%prev.
Ceratodermia palmoplantar
Muito frequente (99-80%)
90%prev.
Gengivite
Muito frequente (99-80%)
32sintomas
Muito frequente (11)
Frequente (7)
Ocasional (11)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

PústulaPustule
Muito frequente (99-80%)90%
Periodontite graveSevere periodontitis
Muito frequente (99-80%)90%
Agenesia dentáriaTooth agenesis
Muito frequente (99-80%)90%
Anormalidade da dentiçãoAbnormality of the dentition
Muito frequente (99-80%)90%
Ceratodermia palmoplantarPalmoplantar keratoderma
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico545PubMed
Últimos 10 anos120publicações
Pico201714 papers
Linha do tempo
2026Hoje · 2026🧪 2006Primeiro ensaio clínico📈 2017Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

CTSCDipeptidyl peptidase 1Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Lysosome

VIAS BIOLÓGICAS (1)
MHC class II antigen presentation
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
104.9 TPM
Pulmão
61.5 TPM
Baço
57.1 TPM
Linfócitos
52.9 TPM
Adipose Visceral Omentum
38.4 TPM
OUTRAS DOENÇAS (3)
periodontitis, aggressive 1Haim-Munk syndromePapillon-Lefevre disease
HGNC:2528UniProt:P53634

Variantes genéticas (ClinVar)

134 variantes patogênicas registradas no ClinVar.

🧬 CTSC: NM_001814.6(CTSC):c.1023C>G (p.Tyr341Ter) ()
🧬 CTSC: NM_001814.6(CTSC):c.20_38del (p.Leu7fs) ()
🧬 CTSC: NM_001814.6(CTSC):c.814C>G (p.Arg272Gly) ()
🧬 CTSC: NM_001814.6(CTSC):c.54C>T (p.Gly18=) ()
🧬 CTSC: NM_001814.6(CTSC):c.318+8412C>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 474 variantes classificadas pelo ClinVar.

95
95
284
Patogênica (20.0%)
VUS (20.0%)
Benigna (59.9%)
VARIANTES MAIS SIGNIFICATIVAS
CTSC: NM_001814.6(CTSC):c.1023C>G (p.Tyr341Ter) [Pathogenic]
CTSC: NM_001814.6(CTSC):c.20_38del (p.Leu7fs) [Pathogenic]
CTSC: NM_001814.6(CTSC):c.503A>G (p.Tyr168Cys) [Pathogenic]
CTSC: NM_001814.6(CTSC):c.394C>G (p.Arg132Gly) [Likely pathogenic]
CTSC: NM_001814.6(CTSC):c.62C>T (p.Ala21Val) [Uncertain significance]

Vias biológicas (Reactome)

4 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Papillon-Lefèvre

🗺️

Selecione um estado ou use sua localização para ver resultados.

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.

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
122 papers (10 anos)
#1

Papillon-Lefèvre syndrome with excellent response to risankizumab.

Dermatology reports2026 Feb 25

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.

#2

Papillon-Lefèvre Syndrome Unmasked by Atypical Cat Scratch Disease.

The Pediatric infectious disease journal2026 Feb 01
#3

Clinical characteristics of Papillon-Lefèvre syndrome: A KSA perspective.

Journal of Taibah University Medical Sciences2025 Aug

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.

#4

Secukinumab and Upadacitinib Treatment for Papillon-Lefèvre Syndrome in 2 Cases.

JAMA dermatology2025 Aug 01

This case report describes 2 patients with Papillon-Lefèvre syndrome whose symptoms improved with secukinumab and upadacitinib treatment.

#5

Dental management of a young patient with Papillon-Lefèvre syndrome.

BMJ case reports2025 Feb 24

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

Ver todas no PubMed

📚 EuropePMC463 artigos no totalmostrando 117

2026

Papillon-Lefèvre syndrome with excellent response to risankizumab.

Dermatology reports
2025

Differences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.

Biomedicines
2025

Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.

Reports (MDPI)
2025

Papillon-Lefèvre Syndrome: Case Report of Two Sisters.

International journal of clinical pediatric dentistry
2026

Papillon-Lefèvre Syndrome Unmasked by Atypical Cat Scratch Disease.

The Pediatric infectious disease journal
2025

Periodontal Manifestations of Systemic Diseases.

Journal of periodontal research
2025

Dipeptidyl peptidase 1 inhibitors for inflammatory respiratory diseases: mechanisms, clinical trials, and therapeutic prospects.

Frontiers in pharmacology
2025

Clinical characteristics of Papillon-Lefèvre syndrome: A KSA perspective.

Journal of Taibah University Medical Sciences
2025

Secukinumab and Upadacitinib Treatment for Papillon-Lefèvre Syndrome in 2 Cases.

JAMA dermatology
2025

Inhibition of CTSC contributes to psoriasis inflammation and keratinocyte hyperproliferation by NF-κB signaling pathway.

International immunopharmacology
2025

Triangular Lunulae in Papillon-Lefèvre Syndrome: A Case Report.

Clinical case reports
2025

Dental management of a young patient with Papillon-Lefèvre syndrome.

BMJ case reports
2025

Papillon-Lefèvre syndrome: palmoplantar keratoderma with teeth abnormalities.

Clinical and experimental dermatology
2024

Papillon-Lefevre syndrome: Case series.

Journal of oral and maxillofacial pathology : JOMFP
2025

A Japanese case of Papillon-Lefèvre syndrome diagnosed by pyogenic liver abscess.

The Journal of dermatology
2025

The di-leucine motif in the host defense peptide LL-37 is essential for initiation of autophagy in human macrophages.

Cell reports
2024

Pharmacological inhibition of cathepsin S and of NSPs-AAP-1 (a novel, alternative protease driving the activation of neutrophil serine proteases).

Biochemical pharmacology
2024

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

Journal of translational medicine
2024

Skeletal indicators of pathology in the context of early tooth loss in children: A systematic literature review.

International journal of paleopathology
2024

Papillon-Lefèvre syndrome in dental pediatric patient: A comprehensive review.

The Saudi dental journal
2024

Self-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 dermatology
2024

The oral microbiome of a family including Papillon-Lefèvre-syndrome patients and clinically healthy members.

BMC oral health
2024

Papillon-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 biology
2024

Recalcitrant skin ulcers in a patient with Papillon-Lefèvre syndrome: an unusual novel presentation.

Clinical and experimental dermatology
2024

Identification 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 : JEADV
2024

Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.

The British journal of dermatology
2024

Cathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders.

Biochimie
2024

Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefèvre syndrome.

The British journal of dermatology
2023

Diagnosis and Management of Papillon-Lefevre Syndrome: A Rare Case Report and a Brief Review of Literature.

Cureus
2024

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

Evidence-based dentistry
2023

Oral 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 dentistry
2022

Multidisciplinary management of Papillon-Lefevre syndrome as a result of consanguineous marriage.

BMJ case reports
2022

Subsiding of Periodontitis in the Permanent Dentition in Individuals with Papillon-Lefèvre Syndrome through Specific Periodontal Treatment: A Systematic Review.

Healthcare (Basel, Switzerland)
2022

Oral Juvenile Xanthogranuloma: a case report of gingival hyperplasia and osteolysis in male adult patient.

BMC oral health
2023

Dimethyl fumarate for treating Papillon-Lefèvre syndrome.

JAAD case reports
2022

Case report: Corticosteroids as an adjunct treatment for the management of liver abscess in Papillon-Lefèvre syndrome: A report on two cases.

Frontiers in pediatrics
2022

Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.

European journal of medical genetics
2022

Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature.

Cureus
2023

Fixed 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 Dentistry
2022

Long-Term Results after Placing Dental Implants in Patients with Papillon-Lefèvre Syndrome: Results 2.5-20 Years after Implant Insertion.

Journal of clinical medicine
2022

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.

International journal of environmental research and public health
2022

Targeting Cathepsin C in PR3-ANCA Vasculitis.

Journal of the American Society of Nephrology : JASN
2021

A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function.

PloS one
2022

Papillon-Lefevre syndrome treated by acitretin: case report and cytokine profile.

Journal of the European Academy of Dermatology and Venereology : JEADV
2021

The first case report of Haim Munk disease with neurological manifestations and literature review.

Clinical case reports
2021

Oral Phenotype and Salivary Microbiome of Individuals With Papillon-Lefèvre Syndrome.

Frontiers in cellular and infection microbiology
2021

Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome.

Annals of dermatology
2021

Survival Rates of Dental Implants in Patients with Papillon-Lefévre Syndrome: A Systematic Review.

The journal of contemporary dental practice
2021

A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

Clinical and experimental dental research
2021

Two patients with Papillon-Lefèvre syndrome without periodontal involvement of the permanent dentition.

The Journal of dermatology
2021

Potential Role of the Mitochondria for the Dermatological Treatment of Papillon-Lefèvre.

Antioxidants (Basel, Switzerland)
2020

Diagnosis of Papillon-Lefèvre syndrome: review of the literature and a case report.

Postepy dermatologii i alergologii
2020

Dental prosthetic rehabilitation of Papillon-Lefèvre syndrome: a case report.

Clinics and practice
2020

Oral rehabilitation of Papillon-Lefèvre syndrome patients by dental implants: a systematic review.

Journal of the Korean Association of Oral and Maxillofacial Surgeons
2020

Cathepsin G and its Dichotomous Role in Modulating Levels of MHC Class I Molecules.

Archivum immunologiae et therapiae experimentalis
2020

Lung Protection by Cathepsin C Inhibition: A New Hope for COVID-19 and ARDS?

Journal of medicinal chemistry
2020

Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.

Molecular biology reports
2020

Japanese case of Papillon-Lefèvre syndrome with novel compound heterozygous mutations.

The Journal of dermatology
2020

Papillon-Lefèvre syndrome: Oral aspects and treatment.

Dermatologic therapy
2020

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.

Annals of dermatology
2020

A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report.

Cureus
2020

Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.

Clinical and experimental dermatology
2019

Papillon Lefevre Syndrome.

La Tunisie medicale
2020

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

American journal of medical genetics. Part A
2020

A New Terminal Nonsense Mutation of the Cathepsin C Gene in a Patient With Atypical Papillon-Lefèvre Syndrome.

Journal of investigational allergology &amp; clinical immunology
2019

Cu-sil dentures: A novel approach of Papillon-Lefèvre syndrome management.

Journal of the Indian Society of Pedodontics and Preventive Dentistry
2020

Digital prosthodontic management of a young patient with Papillon-Lefèvre syndrome: A clinical report.

The Journal of prosthetic dentistry
2019

Clinical and molecular analysis in Papillon-Lefèvre syndrome.

American journal of medical genetics. Part A
2019

Papillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study.

Case reports in oncology
2019

Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report.

Case reports in dentistry
2019

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.

Journal of human genetics
2019

CTSC compound heterozygous mutations in two Chinese patients with Papillon-Lefèvre syndrome.

Oral diseases
2019

[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 stomatology
2018

Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature.

International journal of clinical pediatric dentistry
2018

Case Report: Clinical manifestation and dental management of Papillon-Lefèvre syndrome.

F1000Research
2018

[Papillon-Lefevre syndrome complicated with liver abscess].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2018

Papillon-Lefèvre syndrome.

Anais brasileiros de dermatologia
2019

Aggregated 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 Biology
2018

A Rare Presentation of Psychotic Depression with Suicidality in a Case of Papillon-Lefèvre Syndrome.

Indian journal of psychological medicine
2018

Periodontal 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 periodontology
2018

Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis.

The Journal of biological chemistry
2018

Therapeutic targeting of cathepsin C: from pathophysiology to treatment.

Pharmacology &amp; therapeutics
2019

Papillon-Lefevre Syndrome: A case report.

Medicina clinica
2018

Autophagic dysfunction in patients with Papillon-Lefèvre syndrome is restored by recombinant cathepsin C treatment.

The Journal of allergy and clinical immunology
2017

A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World.

Iranian journal of child neurology
2017

Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome?

Journal of pediatric genetics
2017

Full-Mouth Rehabilitation with Calvarium Bone Grafts and Dental Implants for a Papillon-Lefèvre Syndrome Patient: Case Report.

The International journal of oral &amp; maxillofacial implants
2017

Janus-Faced Neutrophil Extracellular Traps in Periodontitis.

Frontiers in immunology
2017

Papillon-Lefèvre syndrome: A series of three cases in the same family and a literature review.

Quintessence international (Berlin, Germany : 1985)
2017

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

Anesthesiology and pain medicine
2017

Ocular Surface Squamous Neoplasia in Papillon-Lefèvre Syndrome: Outcome at Long-Term Follow-Up of 12 Years.

Cornea
2017

Phenol-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
2016

[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
2017

[Papillon-Lefèvre syndrome: A new case].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2017

Prolonged pharmacological inhibition of cathepsin C results in elimination of neutrophil serine proteases.

Biochemical pharmacology
2017

Oro-dental characteristics of three siblings with Papillon-Lefevre syndrome.

Nigerian journal of clinical practice
2017

Inherited diseases caused by mutations in cathepsin protease genes.

The FEBS journal
2016

Papillon-Lefevre Syndrome: Prosthodontic Rehabilitation of Oral Function.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2017

Stimulus-dependent NETosis by neutrophils from a Papillon-Lefèvre Syndrome patient.

Journal of the European Academy of Dermatology and Venereology : JEADV
2016

Papillon-Lefèvre syndrome: a series of five cases among siblings.

Journal of medical case reports
2016

Whole-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
2016

[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 stomatology
2016

Primary immunodeficiencies associated with eosinophilia.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
2016

Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.

International journal of dermatology
2016

[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 genetics
2016

Characterization of neutrophil function in Papillon-Lefèvre syndrome.

Journal of leukocyte biology
2015

Papillon-Lèfevre syndrome with palmoplantar keratoderma and periodontitis, a rare cause of pyrexia of unknown origin: a case report.

Journal of medical case reports
2016

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.

The FEBS journal
2016

A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome.

Journal of periodontal research
2015

Periodontal Manifestations of Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE) Syndrome in an 11-Year-Old Patient.

Clinical advances in periodontics
2015

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

Saudi medical journal
2016

One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.

Clinical and experimental dermatology
2015

Papillon-Lefèvre syndrome: clinical presentation and management options.

Clinical, cosmetic and investigational dentistry
2015

Papillon-Lefevre Syndrome In An Adolescent Female: A Case Study.

Journal of clinical and diagnostic research : JCDR
2015

Processing of Neutrophil α-Defensins Does Not Rely on Serine Proteases In Vivo.

PloS one
2015

Papillon-lefevre syndrome: review of literature and report of three cases in the same family.

The Nigerian postgraduate medical journal
2015

Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

PloS one
Ver todos os 463 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Papillon-Lef&#xe8;vre syndrome with excellent response to risankizumab.
    Dermatology reports· 2026· PMID 41755622mais citado
  2. Papillon-Lef&#xe8;vre Syndrome Unmasked by Atypical Cat Scratch Disease.
    The Pediatric infectious disease journal· 2026· PMID 40966759mais citado
  3. Clinical characteristics of Papillon-Lef&#xe8;vre syndrome: A KSA perspective.
    Journal of Taibah University Medical Sciences· 2025· PMID 40756331mais citado
  4. Secukinumab and Upadacitinib Treatment for Papillon-Lef&#xe8;vre Syndrome in 2 Cases.
    JAMA dermatology· 2025· PMID 40632515mais citado
  5. Dental management of a young patient with Papillon-Lef&#xe8;vre syndrome.
    BMJ case reports· 2025· PMID 40000042mais citado
  6. Patient-Specific Implants as a Treatment of Oral Manifestations of Aggressive Periodontitis Accompanying Papillon-Lefèvre Syndrome. A Case Report.
    J Maxillofac Oral Surg· 2026· PMID 41971476recente
  7. A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.
    Spec Care Dentist· 2026· PMID 41914522recente
  8. Differences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.
    Biomedicines· 2025· PMID 41462866recente
  9. Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.
    Reports (MDPI)· 2025· PMID 41133531recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:678(Orphanet)
  2. OMIM OMIM:245000(OMIM)
  3. MONDO:0009490(MONDO)
  4. GARD:3100(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Síndrome Papillon-Lefèvre
Compêndio · Raras BR

Síndrome Papillon-Lefèvre

ORPHA:678 · MONDO:0009490
Prevalência
1-9 / 1 000 000
Herança
Autosomal recessive
CID-10
Q82.8 · Outras malformações congênitas especificadas da pele
CID-11
Início
Childhood, Infancy, Neonatal
Prevalência
0.25 (Worldwide)
MedGen
UMLS
C0030360
EuropePMC
Wikidata
Wikipedia
Papers 10a
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