A fibromatose gengival hereditária (HGF) é uma hiperplasia fibrosa não inflamatória, benigna, rara, lentamente progressiva, da gengiva maxilar e mandibular que geralmente ocorre com a erupção da dentição permanente (ou mais raramente da decídua) ou mesmo no nascimento. Apresenta-se como um crescimento excessivo localizado ou generalizado, liso ou nodular dos tecidos gengivais de gravidade variável. Pode ser isolada, com herança autossômica dominante ou como parte de uma síndrome.
Introdução
O que você precisa saber de cara
A fibromatose gengival hereditária (HGF) é uma hiperplasia fibrosa não inflamatória, benigna, rara, lentamente progressiva, da gengiva maxilar e mandibular que geralmente ocorre com a erupção da dentição permanente (ou mais raramente da decídua) ou mesmo no nascimento. Apresenta-se como um crescimento excessivo localizado ou generalizado, liso ou nodular dos tecidos gengivais de gravidade variável. Pode ser isolada, com herança autossômica dominante ou como parte de uma síndrome.
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
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 5 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
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells (PubMed:11741002, PubMed:11779185, PubMed:12399542, PubMed:26551668, PubMed:7697725, PubMed:7871435, PubMed:8568247). Restricts the expression of neuronal genes by associating with two distinct corepressors, SIN3A and RCOR1, which in turn recruit histone deacetylase to the promoters of REST-regulated genes (PubMed:10449787, PubMed:10734093). Mediates re
NucleusCytoplasm
Wilms tumor 6
A pediatric malignancy of kidney, and the most common childhood abdominal malignancy. It is caused by the uncontrolled multiplication of renal stem, stromal, and epithelial cells.
Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3/ERK1 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity)
Fibromatosis, gingival, 1
A form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF1 is usually transmitted as an autosomal dominant trait, although sporadic cases are common.
May be involved in transcriptional regulation
Nucleus
Fibromatosis, gingival, 6
An autosomal dominant form of hereditary gingival fibromatosis, a rare condition characterized by a slow, progressive overgrowth of the gingiva. The excess gingival tissue can cover part of or the entire crown, and can result in diastemas, teeth displacement, or retention of primary or impacted teeth. GINGF6 is characterized by gingival overgrowth beginning in the first decade of life.
Variantes genéticas (ClinVar)
588 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
35 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 — Fibromatose gengival hereditária
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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
Non-Syndromic Hereditary Gingival Fibromatosis Driven by Chymase Deficiency Is Attenuated by Verteporfin-Loaded Exosomes.
To identify novel non-syndromic hereditary gingival fibromatosis (nsHGF)-associated pathogenic variants and discover therapeutic targets for innovative, minimally invasive therapies. Whole-genome sequencing was performed to identify the pathogenic variant in a family with nsHGF. Levels of fibrosis markers and the yes-associated protein/transcriptional coactivator with PDZ-binding motif (YAP/TAZ) in gingival fibroblasts were measured by qPCR, western blot and immunofluorescence. Conditioned medium from gingival fibroblasts was used to treat THP-1-derived macrophages. In vivo pro-fibrotic behaviour of CHYMASE-silenced gingival fibroblasts and verteporfin-loaded exosome efficacy were evaluated in NOD/SCID mice. We identified a novel CHYMASE (CMA1) nonsense mutation (c.114C>A, p.Tyr38*) in the nsHGF family. This mutation caused chymase deficiency in the patient's gingival fibroblasts, directly leading to extracellular matrix (ECM) overproduction through YAP/TAZ activation. Moreover, CHYMASE-silenced gingival fibroblasts promoted interleukin-6 (IL-6) secretion by macrophages, thereby amplifying pro-fibrotic responses in gingival fibroblasts. The YAP inhibitor verteporfin suppressed ECM overproduction in CHYMASE-silenced gingival fibroblasts. In vivo, topical administration of verteporfin-loaded exosomes significantly attenuated chymase deficiency-induced fibrosis. Our findings support the pathogenic role of the CHYMASE mutation in nsHGF, establish chymase deficiency and consequent YAP/TAZ activation as the underlying mechanism and propose verteporfin-loaded exosomes as a promising therapeutic strategy for nsHGF-associated gingival overgrowth.
Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
Hereditary gingival fibromatosis (HGF) is a rare, genetically heterogeneous disorder characterized by benign, slowly progressive fibrous overgrowth of the gingiva. This study aimed to identify the pathogenic genes responsible for non-syndromic HGF and to elucidate the activation mechanism for truncated SOS1 protein. Genomic DNA was extracted from peripheral blood samples of two unrelated Han Chinese families with non-syndromic HGF. Whole-genome sequencing (WGS) was utilized to identify pathogenic mutations. Bioinformatic analyses were conducted to predict the deleteriousness of the identified mutations. The phenotypic spectrum of SOS1 mutations was summarized by literature review methods, with a particular focus on the gingival hyperplasia phenotype. Genotype-phenotype correlations were analyzed. WGS identified two novel SOS1 mutations, c.3262dupA/p.Thr1088fs and c.1523A>G/p.Asn508Ser in two unrelated Han Chinese families with non-syndromic HGF. MutationTaster and CADD revealed the c.1523A>G/p.Asn508Ser mutation as disease-causing. The mutational spectrum of SOS1 showed a predominance of missense mutations, among which three were linked to the gingival hyperplasia phenotype. Frameshift mutations in the C-terminal region of SOS1 were all associated with the gingival hyperplasia phenotype. A novel "Dual-Gated Model" was introduced to elucidate the activation mechanisms for both the normal and truncated forms of SOS1. Our study identified two novel SOS1 mutations, c.3262dupA/p.Thr1088fs and c.1523A>G/p.Asn508Ser, in two unrelated Han Chinese families with non-syndromic HGF. A novel "Dual-Gated Model" was proposed to elucidate the full activation process of wild-type and truncated SOS1. We extended the mutational spectrum of SOS1 in non-syndromic HGF and provided new insights on the molecular mechanism of pathogenesis.
A Novel Gene DUSP8 Missense Mutation Causes Nonsyndromic Hereditary Gingival Fibromatosis by Dysregulating Lysine Lactylation.
The goal of this study was to explore new candidate genes and pathogenesis mechanisms of nonsyndromic hereditary gingival fibromatosis (nsHGF) and to provide an experimental basis for the diagnosis of nsHGF. Whole-exome sequencing (WES) was performed on peripheral blood DNA from three nsHGF family members to screen for new candidate genes, and Sanger sequencing and related databases were used to verify the pathogenicity of this gene deficiency. Moreover, the effects of gene deficiency on the biological characteristics of human gingival fibroblasts (HGFs) were evaluated via cell proliferation assays, extracellular matrix (ECM) deposition detection, cell apoptosis and cell cycle assessment, cell migration and gene expression analyses. A novel missense mutation in dual-specificity phosphatase 8 (DUSP8, c.1348C>T, p.R450C), which is in the nsHGF-related GINGF4 locus, was identified via WES analysis. A functional study revealed that knocking down DUSP8 expression increased cell proliferation, cell migration and the expression of profibrotic factors (particularly COL1A1), inhibited cell apoptosis, and ultimately resulted in nsHGF. Similarly, this DUSP8 mutation inhibited the expression of the encoded protein and promoted cell proliferation and the expression of profibrotic factors. In addition, both DUSP8 knockdown and DUSP8 mutation induced nsHGF by accelerating glycolysis and panlysine lactylation (Kla) to promote cell proliferation and the expression of ECM-related factors. DUSP8 deficiency might be a novel pathogenic factor that contributes to nsHGF.
Surgical management of hereditary gingival fibromatosis associated with Zimmermann-Laband syndrome using conventional, electrocautery and diode laser gingivectomy.
Hereditary gingival fibromatosis (HGF) is a rare condition characterised by the abnormal growth of gingival tissue, leading to a thickened and fibrous appearance of the gingiva. It can show syndromic and non-syndromic associations. In this case report, the surgical management of HGF associated with the Zimmermann-Laband syndrome was successfully carried out using three different methods: conventional gingivectomy, electrocautery and diode laser gingivectomy. These techniques have proven to be effective in treating hereditary gingival fibromatosis, restoring normal gingival appearance and improving overall oral health.
Correction: Kularbkaew et al. Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis. Int. J. Mol. Sci. 2024, 25, 8867.
The authors wish to make a change to the author names (adding a new author-Teerada Daroontum) on this paper [...].
Publicações recentes
Non-Syndromic Hereditary Gingival Fibromatosis Driven by Chymase Deficiency Is Attenuated by Verteporfin-Loaded Exosomes.
Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
Gingival enlargements: Review of concepts in the context of evolving terminology and implications in clinical dentistry.
Hereditary gingival fibromatosis: a case report with a novel SOS1 mutation and systematic review.
Surgical management of hereditary gingival fibromatosis associated with Zimmermann-Laband syndrome using conventional, electrocautery and diode laser gingivectomy.
📚 EuropePMC154 artigos no totalmostrando 71
Non-Syndromic Hereditary Gingival Fibromatosis Driven by Chymase Deficiency Is Attenuated by Verteporfin-Loaded Exosomes.
Journal of clinical periodontologyNovel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyGingival enlargements: Review of concepts in the context of evolving terminology and implications in clinical dentistry.
Journal of the American Dental Association (1939)Hereditary gingival fibromatosis: a case report with a novel SOS1 mutation and systematic review.
Oral surgery, oral medicine, oral pathology and oral radiologySurgical management of hereditary gingival fibromatosis associated with Zimmermann-Laband syndrome using conventional, electrocautery and diode laser gingivectomy.
BMJ case reportsA Novel Gene DUSP8 Missense Mutation Causes Nonsyndromic Hereditary Gingival Fibromatosis by Dysregulating Lysine Lactylation.
Journal of periodontal researchClinical management of hereditary gingival fibromatosis: Case report with 13 years follow-up.
Clinical advances in periodonticsA Family Report of Hereditary Gingival Fibromatosis.
Case reports in dentistrySurgical Management of Hereditary Gingival Fibromatosis: Case Series.
Clinical, cosmetic and investigational dentistryGenetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis.
International journal of molecular sciencesIdiopathic Gingival Enlargement: A Case Report.
CureusHub Genes, Possible Pathways and Predicted Drugs in Hereditary Gingival Fibromatosis by Bioinformatics Analysis.
The Chinese journal of dental researchIndividualized digitally designed surgical template for guided soft tissue surgery in cases with severe gingival enlargement: A clinical application in hereditary gingival fibromatosis.
International journal of computerized dentistryZNF862 induces cytostasis and apoptosis via the p21-RB1 and Bcl-xL-Caspase 3 signaling pathways in human gingival fibroblasts.
Journal of periodontal researchZimmermann-Laband syndrome-associated hereditary gingival fibromatosis.
Journal of Indian Society of PeriodontologyDouble heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.
International journal of oral scienceModified gingivoplasty for hereditary gingival fibromatosis: two case reports.
BMC oral healthSurgical treatment of hereditary gingival fibromatosis by diode laser: Report of five rare cases in the same family.
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 DentistryPeriodontology Part 3: Hereditary Gingival Fibromatosis (HGF): from diagnosis to treatment in the paediatric age.
European journal of paediatric dentistryExpression of TGF-β and MMP-2 in hereditary gingival fibromatosis epithelial cells. A possible contribution of the epithelium to its pathogenesis.
Journal of oral biology and craniofacial researchIdentifying the focuses of hereditary gingival fibromatosis with bioinformatics strategies.
American journal of translational researchNew evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes.
Journal of periodontologyHereditary Gingival Fibromatosis and Developmental Anomalies: A Case Report.
CureusHereditary Gingival Fibromatosis: A Report of a Severe Case.
CureusA novel gene ZNF862 causes hereditary gingival fibromatosis.
eLifeClinics and genetic background of hereditary gingival fibromatosis.
Orphanet journal of rare diseasesCase Report: A Case of Hereditary Gingival Fibromatosis With a High Level of Human β Defensins in Gingival Epithelium.
Frontiers in immunologySeven-year follow-up of a patient with hereditary gingival fibromatosis treated with a multidisciplinary approach: case report.
BMC oral healthHereditary Gingival Fibromatosis: A Report of a Rare Case in Siblings and Its Management Using Diode Laser.
Contemporary clinical dentistryNovel REST Truncation Mutations Causing Hereditary Gingival Fibromatosis.
Journal of dental researchActivated KCNQ1 channel promotes fibrogenic response in hereditary gingival fibromatosis via clustering and activation of Ras.
Journal of periodontal researchHereditary gingival fibromatosis in children: a systematic review of the literature.
Clinical oral investigationsHereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene.
Oral surgery, oral medicine, oral pathology and oral radiologySon of Sevenless-1 genetic status in an Indian family with nonsyndromic hereditary gingival fibromatosis.
Journal of Indian Society of PeriodontologyNonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology.
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 DentistryUnusual clinical and histologic findings in a child with mixed dentition with hereditary gingival fibromatosis: a case report.
Translational pediatricsGeneralized hereditary gingival fibromatosis in a child: clinical, histopathological and therapeutic aspects.
Autopsy & case reports[Hereditary gingival fibromatosis: a three-generation case report].
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyAntifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis.
Journal of dental researchZimmermann-Laband-1 Syndrome: Clinical, Histological, and Proteomic Findings of a 3-Year-Old Patient with Hereditary Gingival Fibromatosis.
BiomedicinesFibroblasts Collagen Production and Histological Alterations in Hereditary Gingival Fibromatosis.
Diseases (Basel, Switzerland)Exomic and transcriptomic alterations of hereditary gingival fibromatosis.
Oral diseasesHereditary Gingival Fibromatosis: a Case Report with Seven-Year Follow-up.
Acta stomatologica CroaticaTowards the targeted management of hereditary gingival fibromatosis.
Medical hypothesesFibroblasts from recurrent fibrotic overgrowths reveal high rate of proliferation in vitro - findings from the study of hereditary and idiopathic gingival fibromatosis.
Connective tissue researchNonsyndromic Gingival Fibromatosis: A Rare Case Report.
International journal of clinical pediatric dentistryTIMP-1 association with collagen type I overproduction in hereditary gingival fibromatosis.
Oral diseasesPeriodontal health and gingival diseases and conditions on an intact and a reduced periodontium: Consensus report of workgroup 1 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions.
Journal of periodontologyGene expression profiling and bioinformatics analysis of hereditary gingival fibromatosis.
Biomedical reportsExpression of CD163 in hereditary gingival fibromatosis: A possible association with TGF-β1.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral PathologyOn the Cellular and Molecular Mechanisms of Drug-Induced Gingival Overgrowth.
The open dentistry journalREST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
American journal of human geneticsDecreased Alpha 2 integrin gene expression in non-familial gingival fibromatosis: a report of two cases.
International journal of clinical and experimental pathologyCraniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
American journal of medical genetics. Part AHereditary gingival fibromatosis: Characteristics and treatment approach.
Journal of clinical and experimental dentistryLack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.
Archives of oral biologyAnalysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis.
Oral diseasesThe significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.
Neuro endocrinology lettersDiode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy.
Clinics and practiceModeling RASopathies with Genetically Modified Mouse Models.
Methods in molecular biology (Clifton, N.J.)The Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report.
The New York state dental journalGenetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics.
Oral diseasesGingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence.
The American journal of case reportsGenomic analysis of gum disease and hypertrichosis in foxes.
Genetics and molecular research : GMRUltrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis.
Oral surgery, oral medicine, oral pathology and oral radiologyHereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management.
The Journal of prosthetic dentistryGingival fibromatosis: clinical, molecular and therapeutic issues.
Orphanet journal of rare diseasesRecent advances in RASopathies.
Journal of human geneticsManagement of hereditary gingival fibromatosis: A 2 years follow-up case report.
Journal of Indian Society of PeriodontologyGingival Fibromatosis with Distinctive Facies - A Three Generation Case Report.
Journal of clinical and diagnostic research : JCDRResection of Gingival Fibromatosis with High-power Laser.
Journal of dentistry for children (Chicago, Ill.)Associações
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Comunidades
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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.
- Non-Syndromic Hereditary Gingival Fibromatosis Driven by Chymase Deficiency Is Attenuated by Verteporfin-Loaded Exosomes.
- Novel SOS1 Mutations Associated With Hereditary Gingival Fibromatosis and Dual-Gated Model for SOS1 Activation.Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology· 2026· PMID 41290531mais citado
- A Novel Gene DUSP8 Missense Mutation Causes Nonsyndromic Hereditary Gingival Fibromatosis by Dysregulating Lysine Lactylation.
- Surgical management of hereditary gingival fibromatosis associated with Zimmermann-Laband syndrome using conventional, electrocautery and diode laser gingivectomy.
- Correction: Kularbkaew et al. Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis. Int. J. Mol. Sci. 2024, 25, 8867.
- Gingival enlargements: Review of concepts in the context of evolving terminology and implications in clinical dentistry.
- Hereditary gingival fibromatosis: a case report with a novel SOS1 mutation and systematic review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2024(Orphanet)
- MONDO:0016070(MONDO)
- GARD:16582(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q10282075(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
