Periodontal manifestations of Ehlers–Danlos syndromes: A systematic review

  title={Periodontal manifestations of Ehlers–Danlos syndromes: A systematic review},
  author={Ines Kapferer-Seebacher and Pernilla Lundberg and Franziska Malfait and Johannes Zschocke},
  journal={Journal of Clinical Periodontology},
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… 

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

A review systematically assessed the spectrum of published dental anomalies in various types of Ehlers-Danlos syndromes, finding that dental abnormalities observed in vascular EDS were pulp shape modifications, exceeding root length, and molar root fusion.

Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.

Characteristic oral traits of pEDS in adults are severe clinical attachment loss with shallow probing depths and marked gingival recession and these indications need to be paralleled by genetic analyses to diagnose pEDs unambiguously.

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

Early severe periodontitis in association with generalized lack of attached gingiva is pathognomonic for periodontal EDS and led to the right clinical and genetic diagnosis in the present case.

Oral manifestations of Ehlers‐Danlos syndromes

The current knowledge in the various EDS types is summarized, 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.

Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.

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, which may be essential to prevent early dental loss.

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes

Comparative enzymatic analyses show that Fg40 retains the native esterolytic activity of C1s, as well as its cleavage efficiency toward the ancillary alarmin HMGB1 substrate, for example, whereas the nominal complement C4 activation cleavage is impaired.

Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

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.

Atrophic violaceus pretibial plaques: when the clue is the oral mucosa

A family with pEDS, who had been misdiagnosed for years, was reported, and brain magnetic resonance imaging of the father was suggestive of a leucoencephalopathy pattern, which could be related to small vessel abnormalities, but might also been related to his hypertension.

Surgical-orthodontic treatment in patients with Ehlers–Danlos syndrome: a report of two familial cases

The surgical-orthodontic treatment for two sisters affected by a common and familial form of EDS, with a follow-up period of 8 years, and a review of oro-dental manifestations and therapeutic approaches for patients with EDS are described.

A Chinese family with periodontal Ehlers–Danlos syndrome associated with missense mutation in the C1R gene

To the authors' knowledge, this is the first case of coexistence of two forms of EDS in a single individual, with coexistence C1R and COL3A1 mutations in the proband who was suspected to suffer from vascular EDS as well.



Oral health in prevalent types of Ehlers-Danlos syndromes.

  • P. D. De CosterL. MartensA. De Paepe
  • Medicine
    Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
  • 2005
Oral health may be severely compromised in EDS as a result of specific alterations of collagen in orofacial structures, and a number of tissue responses (mucosa, periodontium, pulp) and precautions (TMJ dislocation) should be anticipated.

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII

The skeletal manifestations and complications in a proposita of a previously unreported three generation kindred with EDS type VIII are explored, especially in regard to the skeletal phenotype.

Ehlers-Danlos Syndrome (EDS) type IV. Review of the literature

Teeth loss and clinical attachment loss in all the remaining teeth, a symptom compatible with a severe destruction of the periodontal support, was reported after orthodontic treatment in a 23-year-old young man with Ehlers-Danlos syndrome.

Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

The diagnosis of EDS type VIII should be considered in familial forms of periodontitis, even when the associated skin and joint manifestations are unconvincing for the diagnosis of a connective tissue disorder.

Ehlers-Danlos syndrome type VIII with severe periodontitis and apical root resorption after orthodontic treatment.

The case of a young man with EDS type VIII is presented, in order to draw attention to this rare condition and document its clinical dermatological and dental features.

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

Prevalence of gingival recession was low among patients with vEDS, as for periodontitis, and several new specific oral signs of the disease were identified, whose combination may be of greater value in diagnosing v EDS.

Ligneous periodontitis and Ehlers-Danlos syndrome.

In the present case, the histologic examination represented an important tool in the differential diagnosis, because it ruled out EDS type VIII as the associated systemic factor to periodontal breakdown.

Ehlers-Danlos type VIII. Review of the literature.

It seems advisable to consider carefully the indications for orthodontic treatment in patients with Ehlers-Danlos type VIII syndrome, which has suffered from poor healing of wounds at the shins and knees since childhood, which have developed into hyperpigmented atrophic scars.

Ehlers-Danlos type VIII

It seems advisable to consider carefully the indications for orthodontic treatment in patients with Ehlers-Danlos type VIII syndrome, which has suffered from poor healing of wounds at the shins and knees since childhood, which have developed into hyperpigmented atrophic scars.

The Ehlers–Danlos syndromes, rare types

The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research.