ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome.Molecular syndromology · 2026Article
- Smart injectable hydrogels for periodontal regeneration: Recent advancements in biomaterials and biofabrication strategies.Materials today. Bio · 2025Review
- Impact of a Heterozygous C1RCells · 2025Article
- Immunological landscape of periodontitis and rheumatoid arthritis and their molecular crosstalk.European journal of medical research · 2025Article
- Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- An exemplary model of genetic counselling for highly specialised services.Journal of community genetics · 2023Review
- Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.Frontiers in immunology · 2023Article
- Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.Frontiers in genetics · 2023Article
- Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.Journal of clinical periodontology · 2022Article
- The yin and the yang of early classical pathway complement disorders.Clinical and experimental immunology · 2022Review
- Ehlers-Danlos syndromes and their manifestations in the visual system.Frontiers in medicine · 2022Review
- Complement System and Alarmin HMGB1 Crosstalk: For Better or Worse.Frontiers in immunology · 2022Review
- Transcriptome Analysis of Monocytes and Fibroblasts Provides Insights Into the Molecular Features of Periodontal Ehlers-Danlos Syndrome.Frontiers in genetics · 2022Article
- Oral manifestations of Ehlers-Danlos syndromes.American journal of medical genetics. Part C, Seminars in medical genetics · 2021Review
- Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.Biomolecules · 2021Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe 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.
methodsNineteen children with a parent diagnosed with molecularly confirmed pEDS underwent physical examination including oral and radiological investigations followed by genetic testing.
resultsThe 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.
conclusionGeneralized 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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