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. 2022 Dec;49(12):1244-1252.
doi: 10.1111/jcpe.13698. Epub 2022 Jul 29.

Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome

Ulrike Lepperdinger  1 , Chloe Angwin  2   3 , Di Milnes  4 , Glenda Sobey  5 , Neeti Ghali  2   3 , Diana Johnson  5 , Angela F Brady  2   3 , Tammy Kammin  5 , Jessica M Bowen  5 , Rebekka Gröbner  6 , Pernilla Lundberg  7 , James Scott  8 , Johannes Zschocke  6 , Fleur S van Dijk  2   3 , Ines Kapferer-Seebacher  1
Affiliations

Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome

Ulrike Lepperdinger et al. J Clin Periodontol. 2022 Dec.

Abstract

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.

Keywords: C1R; C1S; Ehlers-Danlos syndrome; attached gingiva; periodontitis.

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Conflict of interest statement

The authors declare that there are no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Main characteristics of adult individuals with periodontal Ehlers‐Danlos syndrome. Major criteria are (a) early onset periodontitis (panoramic X‐ray of a woman aged 22 years), (b) lack of attached gingiva and (c) pretibial plaque. Picture (d) shows increased visibility of vessels on the palate due to thin, translucent palatal gingiva in pEDS.
FIGURE 2
FIGURE 2
Periodontal characteristics of periodontal Ehlers‐Danlos syndrome (pEDS). (a) Boxplot showing probing pocket depths (PD), recession (Rec) and clinical attachment loss (CAL) in millimetres. One particular finding of pEDS is relatively low PDs (median of 2 mm) regardless of the occurrence of severe CAL (median 8 mm). (b) Cumulative percentage of edentulous per age range. Analysis was based on the age of complete tooth loss of 13 edentulous individuals in the presented cohort. The probability of being edentate at between the age of 35 and 44 years was found to be 28–47%. In comparison, less than 0.5% of the general UK population aged 35–44 years were edentate in 2009.
FIGURE 3
FIGURE 3
Dental characteristics of periodontal Ehlers‐Danlos syndrome. (a–c) a characteristic “kink” caused by diverging roots of the lower premolars or by an anatomical abnormality of the mandibula was diagnosed in 12 of 20 of individuals with teeth in the appropriate region. Other common features were as shown in (d) root fusions of the upper molars and shortened roots (e.g., first upper molar). (e) Generalized hypoplastic roots were found in one individual. Tooth rotation was a common finding, mostly affecting first upper premolars. (f) Pulp stones in the first and second upper molar
See this image and copyright information in PMC

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