ArticleEuropean journal of human genetics : EJHG2013
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 38 citations in OpenAlex.
- Impact of a Heterozygous C1RCells · 2025Article
- Inborn errors of immunity-related immunological mechanisms and pharmacological therapy alternatives in periodontitis.Clinical and experimental immunology · 2025Review
- Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.Frontiers in genetics · 2023Article
- Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- Autophagy facilitates type I collagen synthesis in periodontal ligament cells.Scientific reports · 2021Article
- Article
- Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.American journal of human genetics · 2016Article
- Comparison of gene expression profiles in aortic dissection and normal human aortic tissues.Biomedical reports · 2016Article
- Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients.Case reports in dermatological medicine · 2013Article
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6 authors at 3 institutions in 1 country.
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Abstract
Ehlers-Danlos syndrome (EDS) type VIII (periodontitis type) is a distinct form of EDS characterized by periodontal disease leading to precocious dental loss and a spectrum of joint and skin manifestations. EDS type VIII is transmitted in an autosomal dominant pattern; however, the mutated gene has not been identified. There are insufficient data on the spectrum of clinical manifestations and natural history of the disorder, and only a limited number of patients and pedigrees with this condition have been reported. We present a four-generation EDS type VIII kindred and show that EDS VIII is clinically variable and although some cases lack the associated skin and joint manifestations, microscopic evidence of collagen disorganization is detectable.We further propose that 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. This novel observation highlights the uncertainty of using connective tissue signs in clinical practice to diagnose EDS type VIII.
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