A síndrome de Fibromatose Gengival – Dismorfismo Facial é uma condição muito rara, caracterizada pela combinação de fibromatose gengival (que é o crescimento exagerado da gengiva) e dismorfismo craniofacial (alterações na forma do crânio e do rosto).
Introdução
O que você precisa saber de cara
A síndrome de Fibromatose Gengival – Dismorfismo Facial é uma condição muito rara, caracterizada pela combinação de fibromatose gengival (que é o crescimento exagerado da gengiva) e dismorfismo craniofacial (alterações na forma do crânio e do rosto).
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
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 de fibromatose gengival-dismorfia facial
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.
Sjögren-Larsson syndrome (SLS) constitutes a rare genetic disorder manifesting as a complex neurocutaneous condition characterised by congenital ichthyosis, progressive neurological impairment and intellectual disability. This case report presents an early childhood female patient exhibiting the classic triad of symptoms, along with significant oral complications, including severe dental caries, enamel demineralisation and gingivitis. Molecular genetic testing confirmed a homozygous pathogenic variant in the ALDH3A2 (Aldehyde Dehydrogenase 3 family member 2) gene, establishing the diagnosis. The patient's management encompassed a comprehensive multidisciplinary approach, integrating dental interventions under general anaesthesia, systemic therapies for spasticity and cutaneous manifestations, and regular follow-up care. This case highlights the critical importance of recognising oral manifestations in SLS and emphasises the need for integrated oral healthcare within the broader therapeutic framework for affected individuals.
FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.
Amelogenesis imperfecta type 1G (AI1G), also known as Enamel-Renal-Gingival Syndrome (ERGS), is an autosomal recessive disorder caused by variants in FAM20A, encoding a Golgi apparatus protein crucial for protein processing and secretion. AI1G presents with enamel defects, nephrocalcinosis and gingival overgrowth. Building upon our previous findings demonstrating the impact of FAM20A insufficiency on deciduous dental pulp cells, this study investigated the molecular mechanisms underlying gingival fibromatosis in AI1G. RNA sequencing of gingival fibroblasts from an AI1G patient revealed widespread differential gene expression (DEG). Gene Ontology (GO) analysis demonstrated enrichment of DEGs in biological processes related to cell adhesion, differentiation, proliferation (including positive regulation and cell division), cell cycle regulation, apoptosis and signal transduction. Pathway analysis (Reactome and KEGG) further highlighted the dysregulation of signalling pathways, including Wnt, TGF-β, cell cycle, DNA replication, Rho GTPase signalling and extracellular matrix organisation. Functional assays confirmed these findings, revealing delayed initial attachment and spreading, impaired osteogenic differentiation (evidenced by reduced mineralization and downregulation of DLX5, OCN, RUNX2 and OPN), enhanced cell cycle progression and proliferation (increased colony size and proliferation rates, along with a shift from G0/G1 to G2/M phase) and suppressed apoptosis in FAM20A-insufficient fibroblasts. These results suggest that FAM20A plays a critical role in regulating fundamental processes in gingival fibroblasts, and its insufficiency contributes to the gingival fibromatosis phenotype observed in AI1G through the disruption of cell adhesion, differentiation, proliferation and apoptosis. This study proposes novel insights into the pathogenesis of AI1G and highlights potential therapeutic targets for this complex disorder.
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.
Jones syndrome (JS) is an ultra-rare autosomal dominant condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been recently demonstrated in members of a Finnish family to co-segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1-silencing transcription factor gene (REST). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38-year-old woman, and in her mother. Exome Sequencing identified in both, but not in clinically unaffected members of the family (i.e., a sister and the brother of the proband), the heterozygous pathogenic variant c.2645T>G (p.Leu882*) in exon-5 of the REST gene. This study confirms that exon-5 REST variants cause JS.
Role of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
Oral telangiectasias in hereditary hemorrhagic telangiectasia (HHT) can significantly impair quality of life. While sclerotherapy is an established treatment for HHT-related epistaxis, it is rarely used for oral telangiectasias. We retrospectively reviewed HHT patients who underwent oral sclerotherapy between 2021 and 2024 at a tertiary academic center. Eleven patients (64% female, mean age 61.3 years, 82% ACVRL1 genotype) underwent sclerotherapy using a 1:4 mixture of 3% sodium tetradecyl sulfate and air. Lesions treated included the lip (36%), tongue (36%), hard palate (18%), and gingiva (9%). Presenting symptoms included oral bleeding with eating and dietary limitations. Adverse effects included transient lip swelling (n = 2) and tongue burning (n = 1). At an average follow-up of 6 months, 10/11 patients with follow-up data had complete symptomatic and clinical resolution. Our findings suggest that oral sclerotherapy is a safe, effective, and minimally invasive treatment for HHT-related oral bleeding that clinicians should consider.
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.
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📖 Revisão📚 EuropePMCmostrando 199
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Clinical geneticsThe Effect of MMP-13, MMP-12, and AMBN on Gingival Enlargement and Root Deformation In a New Type of Gingival Fibromatosis.
The Journal of clinical pediatric dentistryGingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome.
Indian journal of dental research : official publication of Indian Society for Dental ResearchPeriodontal manifestations of Ehlers-Danlos syndromes: A systematic review.
Journal of clinical periodontologyCraniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
American journal of medical genetics. Part A[ORO-DENTO-FACIAL MANIFESTATIONS IN PATIENTS WITH FAMILIAL DYSAUTONOMIA].
Harefuah[THE EFFECT OF DOWN SYNDROME ON TEETH AND JAWS DEVELOPMENT - THE FIRST CASE REPORT ON DENTAL IMPLANTS WITH 15 YEARS FOLLOW-UP].
HarefuahSalivary secretory IgA concentration and dental caries in children with Down syndrome.
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 DentistryFrontonasal dysplasia: oral features, restorative and orthodontic dental treatment in a child.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryThe significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis.
Neuro endocrinology lettersOro-dental characteristics of three siblings with Papillon-Lefevre syndrome.
Nigerian journal of clinical practiceDental care in patients with antiphospholipid syndrome: two case reports.
General dentistrySteinert syndrome and repercussions in dental medicine.
Archives of oral biologyPreventative therapies and periodontal interventions for Down syndrome patients.
Evidence-based dentistryThe Autosomal Dominant Inheritance of Hereditary Gingival Fibromatosis: A Case Report.
The New York state dental journalPeriodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
American journal of human geneticsSalivary Periodontopathic Bacteria in Children and Adolescents with Down Syndrome.
PloS oneGingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence.
The American journal of case reportsAmbras Syndrome with Gingival Hyperplasia: A Rare Entity.
International journal of trichologyOral healthcare management in Bardet Biedl syndrome.
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[Oral health status in children with intellectual disability living in organized groups].
StomatologiiaOro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.
American journal of medical genetics. Part AOral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryGenomic analysis of gum disease and hypertrichosis in foxes.
Genetics and molecular research : GMRTemple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
BMC medical geneticsEpilepsy in KCNH1-related syndromes.
Epileptic disorders : international epilepsy journal with videotapeSturge Weber Syndrome: An Unusual Case with Multisystem Manifestations.
Ethiopian journal of health sciencesAmbras syndrome: A rare case report.
Journal of the Indian Society of Pedodontics and Preventive DentistryRARE CASE OF IDIOPATHIC GINGIVAL FIBROMATOSIS AFFECTING PRIMARY DENTITION.
Journal of Ayub Medical College, Abbottabad : JAMCTuberous sclerosis: histological analysis with confocal laser scanning microscope of gingival angiofibromatosis.
PathologicaGummy Smile and Short Tooth Syndrome--Part 1: Etiopathogenesis, Classification, and Diagnostic Guidelines.
Compendium of continuing education in dentistry (Jamesburg, N.J. : 1995)Dental Treatment Considerations for Children with Complex Medical Histories: A Case of Townes-Brock Syndrome.
The Journal of the Michigan Dental AssociationDe Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
Pediatric dermatologyGingival fibromatosis: clinical, molecular and therapeutic issues.
Orphanet journal of rare diseasesFTO variant associated with malformation syndrome.
American journal of medical genetics. Part A[Neonatal mucolipidosis type II].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieA recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
American journal of medical genetics. Part ARecent advances in RASopathies.
Journal of human geneticsAssociações
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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.
- Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.
- FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.
- Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.
- Role of Sclerotherapy in Treating Oral Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery· 2026· PMID 41451697mais citado
- 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
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.
- Correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease: a retrospective single-center study.
- Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.
- Gorham-Stout disease with thoracic involvement: pathogenic mechanisms, respiratory complications, and multimodal therapies.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2025(Orphanet)
- OMIM OMIM:228560(OMIM)
- MONDO:0009228(MONDO)
- GARD:10528(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781891(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