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Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time
Abstract
We report on a case of Ehlers-Danlos syndrome, probable type VIII (EDS VIII) in a 6-year-old girl with severe periodontitis, extensive bruising of the shins, abnormal bleeding time, and thin body habitus. The structure and biosynthesis of types I and III colagen were normal. Desmopressin (DDAVP) was found to correct the bleeding time, and the patient underwent an uneventful dental procedure after DDAVP therapy. The finding of childhood or juvenile periodontitis should prompt consideration of a diagnosis of EDS, particularly type VIII, and alert the clinician to the possibility of a treatable bleeding abnormality.
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Biochemical analysis of collagen in cultured skin fibroblasts did not show abnormalities in the production and secretion of type I, III, and V collagens in several case reports and also in eight individuals with confirmed mutations in C1S/C1R.
“Biochemical analysis of collagen in cultured skin fibroblasts did not show abnormalities in the production and secretion of type I, III, and V collagens in several case reports and also in eight individuals with confirmed mutations in C1S/C1R [Biesecker et al., 1991;Cunniff and Williamson-Kruse, 1995;Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Cunniff and Williamson-Kruse, 1995
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The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 258
Metadata
- Authors
- CUNNIFF, C., & WILLIAMSON-KRUSE, L.
- Affiliations
- University of Arkansas for Medical Sciences (US)
- ORCID
- CUNNIFF, C.
- Venue
- Clinical Dysmorphology
- Published
- 1995-04
- Volume
- 4
- Issue
- 2
- Pages
- 145???149
- ISSN
- 0962-8827 (ISSN-L)
- OpenAlex
- W2081779082
- Cited by
- 28
- References
- 0
- Citations by year
- 2020: 2 · 2018: 3 · 2017: 2 · 2014: 1 · 2013: 1 · 2012: 1
- FWCI
- 0.21
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Dysmorphology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Dentistry › Periodontics › Oral and gingival health research
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Keywords
- periodontitis, prolonged bleeding time, desmopressin, type III collagen, type I collagen, aggressive periodontitis, bruising, dental treatment, connective tissue diseases
- MeSH terms
- Blood Coagulation Disorders, Child, Deamino Arginine Vasopressin, Ehlers-Danlos Syndrome, Female, Humans, Periodontitis, Time Factors
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