Oral health in prevalent types of Ehlers–Danlos syndromes

Coster, P. J. De; Martens, Luc; Paepe, Anne De

doi:10.1111/j.1600-0714.2004.00300.x

Cited by 84 publications

(93 citation statements)

References 38 publications

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“…[41][42][43][44][45] Symptomatic temporomandibular joint disorders and an increased incidence of caries (likely reflecting poor oral hygiene in the setting of mucosal fragility) are also commonly observed in the classical, hypermobility, and vascular types. 42 Because easy bruising represents a prominent feature of EDS and is frequently the presenting symptom in childhood, affected individuals are often incorrectly suspected to have a clotting or platelet disorder; the possibility of child abuse may also be considered. 46 Recognizing signs of the underlying tissue fragility (including atrophic scarring) and evaluating for other manifestations of EDS are critical steps in establishing the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies

Moore¹,

Votava

Orlow

et al. 2006

Journal of the American Academy of Dermatology

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Section: Discussionmentioning

confidence: 99%

Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies

Moore¹,

Votava

Orlow

et al. 2006

Journal of the American Academy of Dermatology

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“…The most striking skeletal manifestation is joint laxity (12/14), with recurrent subluxations of the elbow (Patients G:II-1, K:II-1, and L:II-2) and temporomandibular joints (Patients G:II-1) as is often seen in the Ehlers-Danlos syndrome [De Coster et al, 2005]. Arachnodactyly (6/15), pectus deformity (5/15), and scoliosis (3/15) were less frequent, although these features may appear with growth.…”

Section: Clinical Presentationmentioning

confidence: 97%

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

et al. 2008

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Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. Recently, SLC2A10 mutations were identified in this condition. This gene encodes the glucose transporter GLUT10 and was previously suggested as a candidate gene for diabetes mellitus type 2. A total of 12 newly identified ATS families with 16 affected individuals were clinically and molecularly characterized. In addition, extensive cardiovascular imaging and glucose tolerance tests were performed in both patients and heterozygous carriers. All 16 patients harbor biallelic SLC2A10 mutations of which nine are novel (six missense, three truncating mutations, including a large deletion). Haplotype analysis suggests founder effects for all five recurrent mutations. Remarkably, patients were significantly older than those previously reported in the literature (P=0.04). Only one affected relative died, most likely of an unrelated cause. Although the natural history of ATS in this series was less severe than previously reported, it does indicate a risk for ischemic events. Two patients initially presented with stroke, respectively at age 8 months and 23 years. Tortuosity of the aorta or large arteries was invariably present. Two adult probands (aged 23 and 35 years) had aortic root dilation, seven patients had localized arterial stenoses, and five had long stenotic stretches of the aorta. Heterozygous carriers did not show any vascular anomalies. Glucose metabolism was normal in six patients and eight heterozygous individuals of five families. As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.

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“…Les patients peuvent présenter des anomalies craniofaciales spécifiques dans le type dermatosparaxis ou un faciès marfanoïde dans les autres types [10]. La denture comporte quelquefois des anomalies de nombre [11], mais ce sont surtout les anomalies de forme qui prédominent [12] avec des sillons et des cuspides plus anfractueux, des racines souvent plus courtes, avec une dilacération plus ou moins marquée dont il faudra tenir compte lors des avulsions dentaires (Fig. 4).…”

Section: Discussionunclassified

Syndrome d’Ehlers-Danlos : à propos d’un cas

Delarue¹,

Souche²,

Cousty³

et al. 2010

Med Buccale Chir Buccale

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Mots clés :Ehlers-Danlos / collagène / hyperlaxité articulaire / hyperélasticité cutanée / cicatrices Résumé -Une patiente âgée de 7 ans consulte pour un bilan bucco-dentaire au cours duquel de nombreuses anomalies sont relevées : hypotaurodontisme, calcifications intrapulpaires, cicatrices cutanées anormales. . . L'anamnèse évoque une cicatrisation de mauvaise qualité après blessures et des luxations articulaires récidivantes (épaule droite, notamment). Devant ce tableau clinique, des investigations complémentaires sont menées au CHU de Toulouse, dans le service de pédiatrie, qui amènent à poser le diagnostic de syndrome d'Ehlers-Danlos (SED). Cette pathologie du collagène s'accompagne de signes gé-néraux typiques, parfois discrets, mais aussi de symptômes bucco-dentaires qui peuvent constituer des signes d'appel. L'objectif de cet article est de présenter les principaux symptômes mais également de définir quelques principes pour la prise en charge de ces patients par l'odontologiste. Key words:Ehlers-Danlos / collagen / joint hypermobility / skin extensibility / scars Abstract -Ehlers-Danlos syndrome: a case report. A 7 year-old patient sees her dentist for a dental balance sheet. Numerous anomalies are raised: hypotaurodontism, intrapulpar calcifications and abnormal cutaneous scars. The anamnesis recalls an inferior healing during wounds, even minor, and articular dislocation. In front of this clinical picture, additional investigations are led in the service of paediatrics of the hospital university centre of Toulouse which bring to put a diagnosis of Ehlers-Danlos syndrome. This syndrome obliges the oral surgeon to revalue its practices in a context of altered healing. This pathology of the collagen comes along with typical general signs, sometimes discreet, but also with oral symptoms which can be signs of call of this entity.Le syndrome d'Ehlers-Danlos (SED) est une pathologie autosomique dominante affectant environ 1 sujet sur 20 000, méconnue par la plupart des acteurs de santé. Le SED s'accompagne d'une cicatrisation anormale, pouvant compliquer les suites opératoires des interventions chirurgicales (désunion des sutures, cicatrisations vicieuses. . .).Cet article a pour objectif de présenter les principaux signes généraux et bucco-dentaires de cette maladie, mais également de définir quelques principes pour la prise en charge de ces patients.

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Oral health in prevalent types of Ehlers–Danlos syndromes

Cited by 84 publications

References 38 publications

Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies

Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Syndrome d’Ehlers-Danlos : à propos d’un cas

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