Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study

Ferre, Francois; Frank, Michael; Gogly, Bruno; Golmard, Lisa; Naveau, Adrien; Chérifi, Hafida; Emmerich, Joseph; Gaultier, Fréderick; Berdal, Ariane; Jeunemaı̂tre, Xavier; Fournier, Benjamin

doi:10.1136/bmjopen-2011-000705

Cited by 21 publications

(26 citation statements)

References 25 publications

(23 reference statements)

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“…The most common oral problem is gum fragility with bleeding after brushing or flossing [Ferré et al, ]. In some individuals, there is marked loss of gingival tissue with recession that can lead to tooth loss.…”

Section: Organ System Involvementmentioning

confidence: 99%

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

Byers¹,

Belmont²,

Black³

et al. 2017

American J of Med Genetics Pt C

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Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications. A summary of recommendations for management include: Identify causative variants in COL3A1 prior to application of diagnosis, modulate life style to minimize injury, risk of vessel/organ rupture, identify and create care team, provide individual plans for emergency care ("vascular EDS passport") with diagnosis and management plan for use when traveling, centralize management at centers of excellence (experience) when feasible, maintain blood pressure in the normal range and treat hypertension aggressively, surveillance of vascular tree by doppler ultrasound, CTA (low radiation alternatives) or MRA if feasible on an annual basis. These recommendations represent a consensus of an international group of specialists with a broad aggregate experience in the care of individuals with vascular EDS that will need to be assessed on a regular basis as new information develops.

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Section: Organ System Involvementmentioning

confidence: 99%

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

Byers¹,

Belmont²,

Black³

et al. 2017

American J of Med Genetics Pt C

Self Cite

270

323

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“…We have previously described the oral phenotype of 17 of them. 10 All patients had a standardized assessment of personal medical history and a physical examination by a senior physician. During genetic counselling, first-degree relatives were proposed to be examined and genetically screened.…”

Section: Study Populationmentioning

confidence: 99%

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

et al. 2015

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Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed. We found 126 distincts variants that were divided into five groups: (1) Glycine substitutions (n = 71), (2) splice-site and in-frame insertions-deletions (n = 36), (3) variants leading to haplo-insufficiency (n = 7), (4) non-glycine missense variants within the triple helix (n = 4 variants), and (5) non-glycine missense variants or in-frame insertions-deletions, in the N-or C-terminal part of the protein (n = 8). Overall, our cohort confirmed the severity of the disease with a median age at first complication of 29 years (IQR 22-39), the most frequent being arterial (48%) and digestive (24%) ruptures. Groups 2 and 1 were significantly more severe than groups 3-5, with extreme median ages at first major complication of 23-47 years. Patients of groups 3-5 had a less typical phenotype and remarkably absence of digestive events. The distribution of glycine-replacing amino acids was strongly biased towards more destabilizing residues of the collagen assembly. Thus the natural course of vEDS and the clinical phenotype of patients are influenced by the type of COL3A1 variant. This study also confirms that patients with variants located in the C-and N-termini or leading to haplo-insufficiency have milder course of the disease and less prevalent diagnostic criteria. These findings may help refine diagnostic strategy, genetic counselling and clinical care.

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“…The structural collagen(s) and its function is altered in all types of EDS. The mucosal tissue is often thin [Ferré et al, ]. Mucosal fragility is also commonplace [Nelson and Assael, 1997].…”

Section: Oral Soft Tissue Manifestationsmentioning

confidence: 99%

Oral and mandibular manifestations in the Ehlers–Danlos syndromes

Mitakides¹,

Tinkle²

2017

American J of Med Genetics Pt C

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The Ehlers-Danlos syndromes (EDS) are hereditary disorders that affect the connective tissue and collagen structures in the body. Several types of EDS have been identified. Oral and mandibular structures, which include oral soft tissue, dentition, facial and head pain, and the functioning of the temporomandibular joint (TMJ), are variably affected in the various types of EDS. These various manifestations of EDS have been noted for many years, but newer diagnostic techniques and studies are shedding additional light on the challenges faced by EDS patients in the area of oral and mandibular disorders. Further, the impact of temporomandibular disorder (TMD) on musculoskeletal dysfunction and vice versa, make this an important feature to recognize. Oral and mandibular hypermobility of the TMJ with associated consequences of EDS are noted. These features, diagnostic parameters and treatment procedures are presented.

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Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study

Cited by 21 publications

References 25 publications

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Oral and mandibular manifestations in the Ehlers–Danlos syndromes

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