Oral characteristics in adult individuals with periodontal <scp>Ehlers‐Danlos</scp> syndrome

Lepperdinger, Ulrike; Angwin, Chloe; Milnes, Di; Sobey, Glenda; Ghali, Neeti; Johnson, Diana; Brady, Angela; Kammin, Tammy; Bowen, Jessica; Gröbner, Rebekka; Lundberg, Pernilla; Scott, James Brown; Zschocke, Johannes; Dijk, Fleur S van; Kapferer-Seebacher, Ines

doi:10.1111/jcpe.13698

Cited by 5 publications

(7 citation statements)

References 42 publications

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“…Current studies on taurodontism has mainly focused on its association with systemic diseases and related pathogenic genes. Related systemic diseases such as tricho-dento-osseous (TDO) syndrome has also been reported [17][18][19][20]. Related pathogenic genes include: NFI-C/ CTF, EDA, RUNX2,WNT10A, WNT10B, GREM2, etc.…”

Section: Discussionmentioning

confidence: 99%

An improved diagnostic method for taurodontism and a comparative study on its effectiveness evaluation

Da,

Zhang,

Chai

et al. 2024

PLoS ONE

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Objective The two commonly used diagnostic methods for taurodontism are susceptible to aging changes, mastication wear and other factors. Therefore, this study proposed an improved diagnostic method for taurodontism, and compared it with the previous two methods as a supplement for taurodontism diagnosis. Methods The included patients were aged 10–89 years and admitted to the Department of Stomatology of Hebei Eye Hospital from June 1, 2022 to May 31, 2023. Eighty cone-beam computed tomography images were divided equally into 4 groups: 10–29, 30–49, 50–69, and 70–89 years old. The right mandibular first molars were selected as measurement objects. Firstly, |BD| and taurodontism index (TI)-related parameters were measured using Shifman and Chanannel’s method and crown-body(CB) and root (R) lengths was measured by Seow and Lai’s method. The improved method used the length from the cementoenamel junction(CEJ) to the root bifurcation point(body, B)and the root length(root, R)as the measurement objects. Finally, TI, CB/R ratios, and B/R ratios were calculated according to the formulas given below. One-way ANOVA analysis was mainly used to compare the differences in the values, indices and ratios of taurodontism among different age groups (p<0.05). Results With the increase of age, |BD| and TI values decreased significantly (p<0.01). The CB/R ratios of 70–89 years group were significantly lower than those of the other three groups (p<0.01). Ratios derived from the improved method were significantly lower in the 70–89 years than in 10–29 years group (p<0.05). Conclusions The |BD| and TI parameters proposed by Shifman and channel are significantly influenced by age. The measurements of Seow and Lai (CB/R ratios) were less affected by age compared with those of the former. The improved method(B/R ratios) was least affected by age, which would reduce error and bias in the measurement of taurodontism and obtain more objective results in older patients.

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Section: Discussionmentioning

confidence: 99%

An improved diagnostic method for taurodontism and a comparative study on its effectiveness evaluation

Da,

Zhang,

Chai

et al. 2024

PLoS ONE

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“…Oral manifestations of the present cohort are reported in detail elsewhere ( Lepperdinger et al, 2022 ).…”

Section: Discussionmentioning

confidence: 99%

“…Lack of attached gingiva has been observed as early as 4 years of age and is pathognomonic for pEDS ( Kapferer-Seebacher et al, 2020 ; Lepperdinger et al, 2022 ). This is the first study reporting the spectrum of extraoral clinical features assessed by specialists in inherited connective tissue disease, as observed in a series of 21 individuals with clinically and molecularly proven pEDS.…”

Section: Discussionmentioning

confidence: 99%

“…Since the first description, pEDS has been described clinically in 165 individuals in several case reports, series and pedigree analyses ( Nelson and King, 1981 ; Biesecker et al, 1991 ; Rahman et al, 2003 ; Reinstein et al, 2011 ; Reinstein et al, 2012 ; Reinstein et al, 2013 ; Kapferer-Seebacher et al, 2016 ; Kapferer-Seebacher et al, 2017 ; Cortés-Bretón Brinkmann et al, 2021 ; El Chehadeh et al, 2021 ; Stock et al, 2021 ; Lepperdinger et al, 2022 ; Nakajima et al, 2022 ). In 2003, linkage studies in 5 pedigrees with clinical features of pEDS identified a locus at 12p13 ( Rahman et al, 2003 ).…”

Section: Introductionmentioning

confidence: 99%

“…In the current literature, 165 individuals from 34 families have been published, with 27 (likely) pathogenic variants ( C1S = 5 variants, C1R = 22 variants) ( Kapferer-Seebacher et al, 2016 ; Wu et al, 2018 ; Kapferer-Seebacher et al, 2019 ; Kapferer-Seebacher et al, 2020 ; Cortés-Bretón Brinkmann et al, 2021 ; El Chehadeh et al, 2021 ; Stock et al, 2021 ; Lepperdinger et al, 2022 ; Nakajima et al, 2022 ). Although the molecular cause for pEDS has been defined and fundamental studies are being undertaken to elucidate the pathogenic mechanism, ( Kapferer-Seebacher et al, 2016 ), there is also a need for detailed phenotyping of molecularly confirmed adults with pEDS, to identify specific associated clinical features to improve diagnosis, understanding of pathogenesis and management.…”

Section: Introductionmentioning

confidence: 99%

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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

et al. 2023

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Introduction: Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant type of EDS characterised by severe early-onset periodontitis, lack of attached gingiva, pretibial plaques, joint hypermobility and skin hyperextensibility as per the 2017 International EDS Classification. In 2016, deleterious pathogenic heterozygous variants were identified in C1R and C1S, which encode components of the complement system.Materials and Methods: Individuals with a clinical suspicion of pEDS were clinically and molecularly assessed through the National EDS Service in London and Sheffield and in genetic services in Austria, Sweden and Australia. Transmission electron microscopy and fibroblast studies were performed in a small subset of patients.Results: A total of 21 adults from 12 families were clinically and molecularly diagnosed with pEDS, with C1R variants in all families. The age at molecular diagnosis ranged from 21–73 years (mean 45 years), male: female ratio 5:16. Features of easy bruising (90%), pretibial plaques (81%), skin fragility (71%), joint hypermobility (24%) and vocal changes (38%) were identified as well as leukodystrophy in 89% of those imaged.Discussion: This cohort highlights the clinical features of pEDS in adults and contributes several important additional clinical features as well as novel deleterious variants to current knowledge. Hypothetical pathogenic mechanisms which may help to progress understanding and management of pEDS are also discussed.

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Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

Lepperdinger

Angwin

Milnes

et al. 2022

J Clinic Periodontology

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https://eprints.whiterose.ac.uk/ ReuseThis article is distributed under the terms of the Creative Commons Attribution-NonCommercial (CC BY-NC) licence. This licence allows you to remix, tweak, and build upon this work non-commercially, and any new works must also acknowledge the authors and be non-commercial. You don't have to license any derivative works on the same terms. More information and the full terms of the licence here: https://creativecommons.org/licenses/

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Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

Cited by 5 publications

References 42 publications

An improved diagnostic method for taurodontism and a comparative study on its effectiveness evaluation

An improved diagnostic method for taurodontism and a comparative study on its effectiveness evaluation

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

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