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

Abstract

Purpose

We report prospective clinical investigations of children affected with periodontal Ehlers–Danlos syndrome (pEDS). The main clinical features of pEDS in adults are early severe periodontitis, generalized lack of attached gingiva, and pretibial hemosiderin plaques due to dominant pathogenic variants in the C1R or C1S genes.

Methods

Nineteen children with a parent diagnosed with molecularly confirmed pEDS underwent physical examination including oral and radiological investigations followed by genetic testing.

Results

The only consistent manifestation of pEDS in childhood was a characteristic gingival phenotype: generalized lack of attached gingiva. All children with this gingival phenotype had inherited the familial pathogenic variant (n = 12) whereas the gingival phenotype was absent in children without the familial pathogenic variant (n = 7). Easy bruising was reported in eight affected and zero unaffected children. Other manifestations of pEDS were rarely present in children. Only 2/12 affected children aged 8 and 13 years fulfilled the clinical criteria for pEDS.

Conclusion

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. This is important because an early diagnosis may facilitate better dental hygiene in childhood, which may be essential to prevent early dental loss.

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Fig. 1: Dental and periodontal tissues in health and disease.
Fig. 2: Healthy children with attached gingiva.
Fig. 3: Lack of attached gingiva is pathognomonic for periodontal Ehlers–Danlos syndrome (pEDS) in young children.
Fig. 4: Pretibial findings.

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Acknowledgements

We thank the families with periodontal EDS for their kind cooperation. We grateful to J. Leary for recontacting families with a (suspected) diagnosis of pEDS in the South of the UK, and to A. Rinner for providing X-rays and photographs of some Austrian patients.

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Correspondence to Ines Kapferer-Seebacher DMD, MSc or Fleur S. van Dijk MD, PhD.

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Kapferer-Seebacher, I., Oakley-Hannibal, E., Lepperdinger, U. et al. Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature. Genet Med (2020). https://doi.org/10.1038/s41436-020-00985-y

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Keywords

  • Ehlers–Danlos syndrome
  • complement system
  • C1R
  • C1S
  • attached gingiva

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