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AIM: This review is intended to adapt the current conceptual framework in dental education based on four domains to propose a set of competences, learning outcomes and methods of teaching, learning and assessment for undergraduate education in periodontology. REVIEW: Based on the current framework of competences and learning outcomes recommended by the Association for Dental Education in Europe (ADEE), undergraduate education in periodontology has been updated using the classification and clinical practice guidelines for the diagnosis and treatment of periodontal and peri-implant diseases. CONCLUSIONS: Specific learning outcomes have been proposed within each competence area, that is in Domain I (n = 10), Domain II (n = 13), Domain III (n = 33) and Domain IV (n = 12). Teaching methods and learning activities based on the different dimensions of the cognitive process have been proposed. Additionally, 10 key learning outcomes have been proposed as exit outcomes, which implies their accomplishment within the final assessment of any graduating student.
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AIM: Few genome-wide association studies (GWAS) have been conducted for severe forms of periodontitis (stage III/IV grade C), and the number of known risk genes is scarce. To identify further genetic risk variants to improve the understanding of the disease aetiology, a GWAS meta-analysis in cases with a diagnosis at ≤35 years of age was performed. MATERIALS AND METHODS: Genotypes from German, Dutch and Spanish GWAS studies of III/IV-C periodontitis diagnosed at age ≤35 years were imputed using TopMed. After quality control, a meta-analysis was conducted on 8,666,460 variants in 1306 cases and 7817 controls with METAL. Variants were prioritized using FUMA for gene-based tests, functional annotation and a transcriptome-wide association study integrating eQTL data. RESULTS: The study identified a novel genome-wide significant association in the FCER1G gene (p = 1.0 × 10-9 ), which was previously suggestively associated with III/IV-C periodontitis. Six additional genes showed suggestive association with p < 10-5 , including the known risk gene SIGLEC5. HMCN2 showed the second strongest association in this study (p = 6.1 × 10-8 ). CONCLUSIONS: This study expands the set of known genetic loci for severe periodontitis with an age of onset ≤35 years. The putative functions ascribed to the associated genes highlight the significance of oral barrier tissue stability, wound healing and tissue regeneration in the aetiology of these periodontitis forms and suggest the importance of tissue regeneration in maintaining oral health.
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Estudio de Asociación del Genoma Completo , Periodontitis , Humanos , Adulto , Genotipo , Periodontitis/genética , Factores de Riesgo , Sitios Genéticos/genéticaRESUMEN
OBJECTIVES: This study aimed to compare the cleansing efficacy of the Oral-B® iO™ electric toothbrush incorporating oscillating-rotating technology with microvibrations - with a traditional oscillating-rotating toothbrush. MATERIALS AND METHODS: Thirty adult participants were randomly assigned to use the iO™ electric toothbrush with the brush head iO™ Ultimate Clean or the traditional oscillating-rotating toothbrush Oral-B® Genius® with the Cross-Action brush head. Oral hygiene indices (Rustogi Modified Navy Plaque Index and Gingival Bleeding Index) were assessed before and after 28 days of home use of the assigned product. Participants were instructed to refrain from interdental hygiene during the study period. After a 2-week washout period, the clinical investigation was repeated in a crossover design. RESULTS: All 30 participants completed the study with no dropouts. After 28 days of use, the iO™ showed statistically significantly lower plaque levels than the conventional oscillating-rotating toothbrush (25.09% vs. 30.60%, p = 0.029). This difference was particularly noticeable in marginal and approximal areas. There were no significant distinctions in gingival bleeding indices. CONCLUSIONS: The Oral-B® iO™ electric toothbrush displayed enhanced plaque removal efficiency compared to a conventional oscillating-rotating technology. CLINICAL RELEVANCE: This study highlights the potential benefits of advanced toothbrush technologies for plaque reduction and encourages further research.
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Estudios Cruzados , Índice de Placa Dental , Cepillado Dental , Humanos , Cepillado Dental/instrumentación , Femenino , Masculino , Adulto , Diseño de Equipo , Índice Periodontal , Placa Dental/prevención & control , Placa Dental/terapia , Persona de Mediana EdadRESUMEN
OBJECTIVES: To compare the cleansing efficacy of an auto-cleaning device with nylon bristles (Y-brush®) to that of manual toothbrushing. MATERIALS AND METHODS: Twenty probands refrained from oral hygiene for 3 days. Rustogi Modified Navy Plaque Index was assessed before and after (randomized) toothbrushing either with the auto-cleaning device for 5 s per jaw or with a manual toothbrush for a freely chosen time up to 4 min. The clinical investigation was repeated in a cross-over design. In a third trial period, the brushing time for auto-cleaning was increased to 15 s per jaw. The study was supplemented by plaster cast analyses. RESULTS: Full-mouth plaque reduction was higher with manual toothbrushing than with auto-cleaning for 5 s per jaw (p < 0.001). There was no statistically significant difference on smooth tooth surfaces but on marginal and interdental sites. Increasing the brushing time of auto-cleaning to 15 s per jaw resulted in a comparable full-mouth plaque reduction as with manual toothbrushing (p = 0.177). In 95% of individuals, the device was too short not completely covering second molars. In 30.67% of teeth, the gingival margin was not covered by bristles. CONCLUSIONS: Auto-cleaning devices with nylon bristles have a future potential to reach plaque reduction levels comparable to manual toothbrushing, although manufacturers must focus on improving an accurate fit. CLINICAL RELEVANCE: Under the premise of an ameliorated fit, the auto-cleaning device might be recommendable for people with low brushing efficacy. Interdental sites remain a failure point if adjunct interdental cleaning is not viable.
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Gingivitis , Diente , Humanos , Cepillado Dental , Nylons , Dispositivos para el Autocuidado Bucal , Proyectos Piloto , Índice de Placa Dental , Método Simple Ciego , Diseño de EquipoRESUMEN
OBJECTIVES: Orthodontic patients struggle with interdental cleaning calling for simpler mechanical devices to reduce the high plaque levels. The present study aimed to compare the cleansing efficacy of an oral irrigator with that of dental flossing in patients with fixed braces after 4 weeks of home-use. MATERIALS AND METHODS: The study design is a randomized and single-blinded cross-over study. After 28 days using the products at home, hygiene indices (Rustogi Modified Navy Plaque Index (RMNPI); gingival bleeding index (GBI)) were compared between test (oral irrigator) and control product (dental floss). RESULTS: Seventeen adult individuals finalized the study. After 28 days of cleaning with the oral irrigator, RMNPI was 54.96% (46.91-66.05) compared to 52.98% (42.75-65.60) with dental floss (p = 0.029). Subgroup analysis revealed that the higher cleansing efficacy of the dental floss is attributable to buccal and marginal areas. GBI after the test phase with the oral irrigator was 12.96% (7.14-24.31) and statistically significantly higher compared to 8.33% (5.84-15.33) with dental floss (p = 0.030) which could be seen in all subgroups. CONCLUSIONS: Oral irrigators do not remove plaque and reduce gingival bleeding as efficiently as dental floss in easily accessible regions. However, in posterior regions, where the patients struggled with the application of dental floss, the oral irrigator showed similar results. CLINICAL RELEVANCE: Oral irrigators should only be recommended to orthodontic patients who cannot use interdental brushes and are not compliant with dental flossing.
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Placa Dental , Gingivitis , Adulto , Humanos , Dispositivos para el Autocuidado Bucal , Estudios Cruzados , Cepillado Dental , Gingivitis/prevención & control , Higiene Bucal , Placa Dental/prevención & control , Índice de Placa Dental , Método Simple CiegoRESUMEN
AIM: Periodontal Ehlers-Danlos syndrome (pEDS) is a monogenic type of Ehlers-Danlos syndrome characterized by periodontal destruction at a young age. The present study aimed to document the oral phenotype of pEDS based on prospective clinical investigations. MATERIALS AND METHODS: Thirty-five adult individuals from 13 families with a clinically and genetically confirmed diagnosis of pEDS underwent a systematic oral assessment. RESULTS: Periodontitis stage 3 or 4 or edentulism due to periodontal destruction were diagnosed in 94% of the individuals. First permanent tooth loss was reported at the age of 21.5 years (median; range 13-43 years). Deep periodontal pockets were infrequent, with 94% measuring <4 mm. However, there was increased clinical attachment loss (CAL) averaging 8 mm (range 4-13 mm), and the probability of being edentate between the age of 35 and 44 years was 28-47% compared with less than 0.25% of the general population. Radiographic anomalous findings were only found in a portion of subjects and consisted of fused roots of maxillary second molars (81%), root hypoplasia (57%), taurodontism (26%) and tooth rotation of premolars (67%). As such, radiographic findings are not considered common characteristics of pEDS. CONCLUSIONS: Characteristic oral traits of pEDS in adults are severe CAL with shallow probing depths and marked gingival recession. This is complemented by a lack of attached gingiva. These indications need to be paralleled by genetic analyses to diagnose pEDS unambiguously.
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Síndrome de Ehlers-Danlos , Recesión Gingival , Periodontitis , Humanos , Síndrome de Ehlers-Danlos/complicaciones , Estudios Prospectivos , Recesión Gingival/etiología , Diente Premolar , Pérdida de la Inserción PeriodontalRESUMEN
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders. Patients with EDS exhibit distinct pathologies of the teeth and the oral cavity. Here, we summarize the current knowledge in the various EDS types, in particular regarding severe changes in oral health-related quality of life, the differential emergence of periodontitis, characteristic yet highly cumbersome dental manifestations, apparent anomalies of oral soft tissues, and relevant issues related to dental implantology. Resolution of remaining open questions will primarily rely on the standardization of diagnostic criteria. Clinical centers that specialize on this rare pathology need to apply congruent approaches for exact characterization of clinical features in conjunction with genetic validation that should be reached without exception in all patients and relevant family members.
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Enfermedades del Tejido Conjuntivo , Síndrome de Ehlers-Danlos , Inestabilidad de la Articulación , Anomalías Cutáneas , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Humanos , Calidad de VidaRESUMEN
PURPOSE: We report prospective clinical investigations of children affected with periodontal Ehlers-Danlos syndrome (pEDS). The main clinical features of pEDS in adults are early severe periodontitis, generalized lack of attached gingiva, and pretibial hemosiderin plaques due to dominant pathogenic variants in the C1R or C1S genes. METHODS: Nineteen children with a parent diagnosed with molecularly confirmed pEDS underwent physical examination including oral and radiological investigations followed by genetic testing. RESULTS: The only consistent manifestation of pEDS in childhood was a characteristic gingival phenotype: generalized lack of attached gingiva. All children with this gingival phenotype had inherited the familial pathogenic variant (n = 12) whereas the gingival phenotype was absent in children without the familial pathogenic variant (n = 7). Easy bruising was reported in eight affected and zero unaffected children. Other manifestations of pEDS were rarely present in children. Only 2/12 affected children aged 8 and 13 years fulfilled the clinical criteria for pEDS. CONCLUSION: Generalized lack of attached gingiva is a pathognomonic feature of pEDS and the only clinical finding that is consistently present in affected adults and children. This is important because an early diagnosis may facilitate better dental hygiene in childhood, which may be essential to prevent early dental loss.
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Síndrome de Ehlers-Danlos , Periodontitis , Adulto , Niño , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Encía , Humanos , Fenotipo , Estudios ProspectivosRESUMEN
OBJECTIVES: To compare the cleansing efficacy of a representative "ten seconds" auto-cleaning device with that of uninstructed manual toothbrushing in a pilot study. MATERIALS AND METHODS: Twenty periodontally healthy probands refrained from oral hygiene for 3 days. Baseline full-mouth plaque scores (Rustogi Modified Navy Plaque Index, RMNPI) were assessed. After randomization, probands cleaned their teeth either with the auto-cleaning test device according to the manufacturer's protocol or with a manual toothbrush. Plaque reduction was assessed by two aligned blinded investigators. After a 2-week recovery, the clinical investigation was repeated in a crossover design. The brushing pattern of the auto-cleaning device was analyzed in probands' casts. RESULTS: Full-mouth plaque reduction was 11.37 ± 3.70% for the auto-cleaning device and 31.39 ± 5.27% for manual toothbrushing (p < 0.0001). The investigation of the auto-cleaning device's brushing pattern in dental casts revealed a positive relationship of bristle rows in contact with tooth surfaces and the cleansing efficacy in the respective areas. A maximum of 2/4 bristle rows were in contact with the tooth surfaces; in some areas, the bristles had no contact to the teeth. CONCLUSIONS: Uninstructed manual toothbrushing is superior to auto-cleaning. The alignment and density of the auto-cleaning device's bristle rows need to be improved, and assorted sizes would be necessary to cover different jaw shapes. CLINICAL RELEVANCE: The auto-cleaning device has been developed to accommodate individuals with poor dexterity or compliance. To date, it is unable to provide sufficient plaque reduction due to an inappropriate bristle alignment and poor fit with diverse dental arches.
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Electrónica , Diseño de Equipo , Cepillado Dental , Estudios Cruzados , Índice de Placa Dental , Humanos , Proyectos Piloto , Método Simple CiegoRESUMEN
OBJECTIVE: To compare the cleansing efficacy of waist-shaped versus cylindric inter-dental brushes in patients receiving supportive periodontal therapy. MATERIALS AND METHODS: After sample size estimation, 20 periodontal maintenance patients diagnosed with periodontitis stage 3 were recruited. Brushing efficacy of waist-shaped and cylindric inter-dental brushes was evaluated in a randomized-controlled, examiner-blinded, two-period crossover study by assessment of the Turesky modification of Quigley-Hein plaque index (T-QHI) and the papillary bleeding index (PBI) at four sites per tooth. RESULTS: Seventeen probands with 1,474 tooth sites finished the study. At baseline, median of overall T-QHI scores was 1.4 (interquartile range 1.38-1.92). After 1 month, T-QHI for waist-shaped inter-dental brushes was 1.24 (1.03-1.52); in 15 individuals, T-QHI 0 was the grade most often measured. T-QHI for cylindric brushes was 1.71 (1.18-2.29; p = .042), with T-QHI 0 being the grade most often measured only in seven individuals. The odds ratio for establishing plaque-free inter-dental sites with waist-shaped relative to cylindric brushes was 1.8 [95% CI 1.6-1.9] (p < .001; logistic regression analysis). There were no statistically significant differences between PBI levels of waist-shaped and cylindric brushes. CONCLUSION: This study has demonstrated the superiority in cleansing efficacy of waist-shaped over cylindric inter-dental brushes in individuals receiving supportive periodontal treatment.
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Placa Dental , Gingivitis , Cepillado Dental , Estudios Cruzados , Dispositivos para el Autocuidado Bucal , Índice de Placa Dental , Humanos , Método Simple CiegoRESUMEN
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of EDS. This review systematically assessed the spectrum of published dental anomalies in various types of EDS. Twenty-four individual case reports/series and 3 longer case-control studies, reporting on a total of 84 individuals with a clinical diagnosis of EDS, were included in the data analysis. The main dental features listed in classical EDS were pulp calcification and localized root hypoplasia. Common dental abnormalities observed in vascular EDS were pulp shape modifications (52.2%), exceeding root length (34.8%), and molar root fusion (47.8%). Dentinogenesis imperfecta is a consistent finding in osteogenesis imperfecta/EDS overlap syndrome. Data on dental manifestations in other types of EDS are both rare and generally inconclusive.
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Calcificaciones de la Pulpa Dental/etiología , Síndrome de Ehlers-Danlos/complicaciones , Anomalías Dentarias/etiología , Enfermedades Dentales/congénito , Raíz del Diente/anomalías , Humanos , Anomalías Dentarias/patología , Enfermedades Dentales/etiologíaRESUMEN
In the pedigree, one of the individuals was marked as unaffected whereas it is heterozygous for the SLC24A4 mutation.
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OBJECTIVES: Biallelic variants in solute carrier family 24 member 4 (SLC24A4) have been previously reported to cause non-syndromic autosomal recessive amelogenesis imperfecta (AI) of the pigmented hypomaturation type (MIM #615887). We here describe a novel variant in SLC24A4 causing mild enamel hypomaturation defects also in heterozygous individuals. MATERIALS AND METHODS: In the present pedigree analysis, a large consanguineous Syrian family with AI of the hypomaturation type was investigated by clinical and dental evaluation, and exome and Sanger sequencing. Dental histological investigations of seven primary and two permanent teeth were performed. RESULTS: Homozygous variants in SLC24A4 (c.1604G>A; p.Gly535Asp) were identified in five individuals with brown discolorations and irregular pits and grooves of the teeth. Severe attritions, occlusal abfractions, and the radiological lack of contrast between enamel and dentin point out a mineralization defect. Histological dental investigations confirmed the clinical diagnosis of AI of the hypomaturation type. In two heterozygous individuals, a mild hypomaturation defect was present with white and light brown enamel discolorations. CONCLUSIONS: This is the first report of heterozygous SLC24A4 variants causing mild hypomaturation defects, providing confirmatory evidence that the function of SLC24A4 in calcium transport has a crucial role in the maturation stage of amelogenesis. CLINICAL RELEVANCE: The present report is expanding the clinical phenotype of SLC24A4 variants to more severe forms of amelogenesis imperfecta. An autosomal-dominant inheritance pattern with mild clinical phenotypes in heterozygotes has to be considered.
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Amelogénesis Imperfecta , Amelogénesis , Antiportadores , Esmalte Dental , Humanos , FenotipoRESUMEN
Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers-Danlos syndrome, a rare disease characterized by premature loss of teeth and connective tissue abnormalities. Eight individuals of two families clinically diagnosed with periodontal Ehlers-Danlos syndrome were included in the present study and underwent general physical, dental, and neurological examination. Whole exome sequencing was performed, and all patients included in the study underwent MRI of the brain. Whole exome sequencing revealed heterozygous C1R mutations c.926G>T (p.Cys309Phe, Family A) and c.149_150TC>AT (p.Val50Asp, Family B). All adult individuals (n = 7; age range 31 to 68 years) investigated by MRI had brain white matter abnormalities. The MRI of one investigated child aged 8 years was normal. The MRI pattern was suggestive of an underlying small vessel disease that is progressive with age. As observed in other leukoencephalopathies related to microangiopathies, the extent of the white matter changes was disproportionate to the neurologic features. Medical history revealed recurrent headaches or depression in some cases. Neurological examination was unremarkable in all individuals but one had mild cognitive decline and ataxia and experienced a seizure. The observation that periodontal Ehlers-Danlos syndrome caused by missense mutations in C1R is consistently associated with a leukoencephalopathy opens a new pathogenic link between the classical complement pathway, connective tissue, brain small vessels, and brain white matter abnormalities.
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Encéfalo/patología , Complemento C1r/genética , Síndrome de Ehlers-Danlos/genética , Leucoencefalopatías/genética , Adulto , Anciano , Ataxia Cerebelosa/complicaciones , Ataxia Cerebelosa/diagnóstico , Ataxia Cerebelosa/genética , Niño , Síndrome de Ehlers-Danlos/complicaciones , Síndrome de Ehlers-Danlos/diagnóstico , Femenino , Humanos , Leucoencefalopatías/complicaciones , Leucoencefalopatías/diagnóstico , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Mutación/genética , LinajeRESUMEN
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition. In 17 of these families, we identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (2 families), contiguous genes in the mapped locus that encode subunits C1r and C1s of the first component of the classical complement pathway. These two proteins form a heterotetramer that then combines with six C1q subunits. Pathogenic variants involve the subunit interfaces or inter-domain hinges of C1r and C1s and are associated with intracellular retention and mild endoplasmic reticulum enlargement. Clinical features of affected individuals in these families include rapidly progressing periodontitis with onset in the teens or childhood, a previously unrecognized lack of attached gingiva, pretibial hyperpigmentation, skin and vascular fragility, easy bruising, and variable musculoskeletal symptoms. Our findings open a connection between the inflammatory classical complement pathway and connective tissue homeostasis.
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Complemento C1r/genética , Complemento C1s/genética , Síndrome de Ehlers-Danlos/genética , Eliminación de Gen , Mutación Missense , Periodontitis/genética , Adolescente , Adulto , Niño , Preescolar , Mapeo Cromosómico , Cromosomas Humanos Par 12/genética , Síndrome de Ehlers-Danlos/diagnóstico , Retículo Endoplásmico/genética , Retículo Endoplásmico/metabolismo , Exoma , Femenino , Sitios Genéticos , Humanos , Masculino , Linaje , Periodontitis/diagnóstico , Conformación Proteica , Adulto JovenRESUMEN
OBJECTIVES: Periodontal Ehlers-Danlos syndrome (pEDS) has recently been delineated as a molecularly defined cause of early severe periodontitis. Here we report that implant treatment failed in three affected individuals from one family. MATERIALS AND METHODS: Longitudinal data before and after implant treatment were examined for three individuals with genetically confirmed pEDS in the course of a large-scale pedigree analysis. RESULTS: Most detailed information was available for individual 1 in whom first periodontal bone loss was diagnosed at age 16 years. Rapid progression resulted in multiple tooth extractions at age 23 years and interforaminal placement of four implants. After primary implant success, peri-implant bone loss accompanied by highly inflamed tissues and receding gums led to explantation five years later. In individual 2, severe periodontitis was diagnosed at age 15 years and resulted in extraction of all mandibular teeth at age 28 years. Four interforaminal implants were placed. Peri-implant bone loss was diagnosed four years later, when up to three implant threads were exposed. Individual 3 showed complete tooth loss at age 29 years. He was restored with ten implants and removable prosthesis. Peri-implant bone loss was diagnosed radiologically eight years later, when seven implant threads were exposed. CONCLUSION: This is the first report on severe peri-implant bone loss in pEDS. Retention of teeth as long as possible is the primary objective in pEDS as satisfying prosthetic solutions are missing. Further evaluation of dental management in individuals with pEDS is needed to develop concise treatment guidelines.
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BACKGROUND: Kohlschütter-Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations. METHODS: In the present cohort study, nine individuals from four families with the clinical diagnosis of KTZS and absence of ROGDI mutations as well as one patient with unexplained epileptic encephalopathy were investigated by clinical and dental evaluation, parametric linkage analysis (one family), and exome and/or Sanger sequencing. Dental histological investigations were performed on teeth from individuals with SLC13A5-associated and ROGDI-associated KTZS. RESULTS: Biallelic mutations in SLC13A5 were identified in 10 affected individuals. Epileptic encephalopathy usually presents in the neonatal and (less frequently) early infantile period. Yellowish to orange discolouration of both deciduous and permanent teeth, as well as wide interdental spaces and abnormal crown forms are major clinical signs of individuals with biallelic SLC13A5 mutations. Histological dental investigations confirmed the clinical diagnosis of hypoplastic AI. In comparison, the histological evaluation of a molar assessed from an individual with ROGDI-associated KTZS revealed hypocalcified AI. CONCLUSIONS: We conclude that SLC13A5 is the second major gene associated with the clinical diagnosis of KTZS, characterised by neonatal epileptic encephalopathy and hypoplastic AI. Careful clinical and dental delineation provides clues whether ROGDI or SLC13A5 is the causative gene. Hypersensitivity of teeth as well as high caries risk requires individual dental prophylaxis and attentive dental management.
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Amelogénesis Imperfecta/genética , Demencia/genética , Epilepsia/genética , Predisposición Genética a la Enfermedad/genética , Simportadores/genética , Alelos , Encefalopatías/genética , Estudios de Cohortes , Exoma/genética , Femenino , Ligamiento Genético/genética , Humanos , Masculino , Proteínas de la Membrana/genética , Mutación/genética , Proteínas Nucleares/genética , Linaje , DienteRESUMEN
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes. Advances in molecular testing have made it possible to now identify the causative mutation for many patients presenting these phenotypes. The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research. © 2017 Wiley Periodicals, Inc.
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Síndrome de Ehlers-Danlos/clasificación , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Matriz Extracelular/genética , Heterogeneidad Genética , Humanos , Técnicas de Diagnóstico Molecular/tendencias , MutaciónRESUMEN
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.
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Síndrome de Ehlers-Danlos/clasificación , Guías de Práctica Clínica como Asunto , Colágeno/genética , Enfermedades del Tejido Conjuntivo/genética , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Heterogeneidad Genética , Humanos , MutaciónRESUMEN
AIM: Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Periodontal EDS (pEDS) is a specific EDS subtype caused by heterozygous mutations in complement 1 subunit genes C1R and C1S, with early severe periodontitis as predominant clinical feature. We aimed to systematically assess the spectrum of periodontal abnormalities in all EDS subtypes. MATERIALS AND METHODS: An electronic and manual search was conducted in three databases (Medline, LIVIVO, CENTRAL). Publications of all study designs written in English/German without date restriction evaluating periodontal features in EDS were included. RESULTS: Thirty articles on pEDS and thirteen articles on other EDS subtypes were analysed. In pEDS, early severe periodontitis (98.4%) and gingival recession (87.1%) are the predominant features. Reports on periodontal manifestations in other EDS subtypes are rare. Described were severe gingival enlargement in dermatosparaxis EDS, and localized periodontal breakdown related to teeth with shortened roots in classical EDS (n = 3, respectively). CONCLUSION: Early severe periodontitis is the hallmark of pEDS; there is no evidence that it is part of the clinical phenotype of other EDS subtypes. Stringent analyses of periodontal manifestations in most EDS subtypes are missing. Prospero registration number CRD42017056889.