Presentation
Acronym EDSPD2 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
Ehlers-Danlos Support Group (UK). 56 Beighton P...Wenstrup RJ 9557891 1998 14 Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. 56 Tsipouras P...Ramirez F 2875936 1986 15 Ehlers-Danlos syndrome presenting [malacards.org]
Ehlers-Danlos syndrome (EDS) is a hereditary collagen disease presenting primarily as dermatological and joint disorders. [cda-adc.ca]
Case Presentation A 6.5-year-old Iranian female was presented to the pediatric dental clinic at Shahid Beheshti University of Medical Sciences in September 2010. Patient had a familial history of EDS with parents being cousins. [comprped.com]
Several metal restorations were present on her primary teeth (Figure 1). [nature.com]
Hematological
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Easy Bruising
Ehlers-Danlos syndrome type VIII. 61 Buckel T...Zaenglein AL 17461822 2007 20 Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. 61 Moore MM...Schaffer JV 16843123 2006 21 Ehlers-Danlos type VIII [malacards.org]
Skin hyperextensibility was variable and all had skin fragility with easy bruising and scarring. [jaad.org]
Pediatr Dent 1993; 15: 212–213. 19 Moore MM, Votava JM, Orlow SJ, Schaffer JV : Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. [nature.com]
Major criteria are: Severe progressive cardiac-valvular problems (aortic valve, mitral valve); Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and Joint hypermobility (generalized or restricted to small joints). [ehlers-danlos.com]
Clinical features include lack of attached gingiva already present in childhood, easy bruising, pretibial haemosiderotic plaques, doughy skin, hoarse voice, poor wound healing, and hypermobility of joints. [frontiersin.org]
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Prolonged Bleeding
bleeding time. 61 Cunniff C...Williamson-Kruse L 7606321 1995 28 [Ehlers-Danlos syndrome and pregnancy]. 61 Flachowsky S...Kamin G 2278221 1990 29 [Oral manifestations of Ehlers-Danlos syndrome type VIII]. 61 Olesen BH...Ernst E 3475800 1987 30 Gingival [malacards.org]
Br Dent J 1979; 147: 95–96. 11 Cunniff C, Williamson-Kruse L : Ehlers-Danlos syndrome, type viii presenting with periodontitis and prolonged bleeding time. Clin Dysmorphol 1995; 4: 145–149. 12 Nelson DL, King RA : Ehlers-Danlos syndrome type VIII. [nature.com]
Entire Body System
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Marfanoid Habitus
Ehlers-Danlos syndrome type VIII. 61 Buckel T...Zaenglein AL 17461822 2007 20 Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. 61 Moore MM...Schaffer JV 16843123 2006 21 Ehlers-Danlos type VIII [malacards.org]
Pediatr Dent 1993; 15: 212–213. 19 Moore MM, Votava JM, Orlow SJ, Schaffer JV : Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. [nature.com]
Respiratoric
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Hoarseness
1 Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness. 61 56 6 27663155 2016 2 Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). 61 56 [malacards.org]
Clinical features include lack of attached gingiva already present in childhood, easy bruising, pretibial haemosiderotic plaques, doughy skin, hoarse voice, poor wound healing, and hypermobility of joints. [frontiersin.org]
Jaw & Teeth
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Periodontitis
6 Cikla U...Baskaya MK 25485215 2014 3 Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. 61 56 6 Reinstein E...Curry CJ 22739343 2013 4 Periodontal [malacards.org]
EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. [uniprot.org]
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. [nature.com]
Characteristic hyperpigmented pretibial plaques and premature periodontal disease, with gingival recession and irreversible destruction of periodontal tissues, were also seen in all five individuals. [jaad.org]
Mutations in C1R and C1S have been shown to cause an autosomal dominant disorder, periodontal EDS (EDSPD). [ctgt.net]
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Gingival Recession
EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. [uniprot.org]
Characteristic hyperpigmented pretibial plaques and premature periodontal disease, with gingival recession and irreversible destruction of periodontal tissues, were also seen in all five individuals. [jaad.org]
Several metal restorations are observed on primary teeth (b) as well as gingival recession and bacterial biofilm accumulation (d). [nature.com]
Skin
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Ulcer
CH 295230 1979 16 A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. 6 Stewart RE...Rimoin DL 890102 1977 17 Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers [malacards.org]
Association of Ehlers-Danlos syndrome and solitary rectal ulcer syndrome. Indian J Gastroenterol. 2007 May-Jun. 26 (3):149-50. [Medline]. Savasta S, Crispino M, Valli M, Calligaro A, Zambelloni C, Poggiani C. [medscape.com]
Jone reported a high risk of mucosal ulceration related to bracket positioning in a case of EDS (25). Pourshahidi et al. had spotted similar findings in another similar case under dental observation (26). [comprped.com]
Type VIII First described by Stewart and others in 1977,12 type VIII is characterized by generalized early-onset periodontitis and by large patches of scar tissue on the shins, similar to diabetic ulcers or varicose veins. [cda-adc.ca]
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Blister
1 Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness. 61 56 6 27663155 2016 2 Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). 61 56 [malacards.org]
Treatment
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]
Review of the literature. 61 Karrer S...Schmalz G 11218502 2000 22 Ehlers-Danlos syndrome type VIII with severe periodontitis and apical root resorption after orthodontic treatment. 61 Karrer S...Schmalz G 10721840 2000 23 Ehlers-Danlos syndrome type [malacards.org]
A Sample of Intraoral View (Mandibular Left Side) Following Dental Treatment Under G.A 3. [comprped.com]
Ehlers-Danlos syndrome: historical review, report of two cases in one family and treatment needs. ASDC J Dent Child 1989; 56(3):220-4. 3. Ooshima T, Abe K, Kohno H, Izumanitani A. [cda-adc.ca]
News FDA Efforts to Bring Patients into Treatment Decisions Focus of NORD Webinar Columns, Unbreakable - a Column by Kimberly Stark Horn Distinguishing Between My Identity and My Roles in Life News With Post-Brexit Move to Amsterdam Complete, EMA Renews [ehlersdanlosnews.com]
Etiology
Etiology and pathogenesis of heritable connective tissue diseases. J Pediatr Orthop 1993: 13(3):392-403. 23. Sacks H, Zelig D, Schabes G. [cda-adc.ca]
Epidemiology
Epidemiology and Diagnosis The prevalence of the condition varies between 1:10,0005 and 1:150,0006 depending on the author. [cda-adc.ca]
The prevalence of EDS has been reported as 1 in 5000 to 100000 live births in different communities; however, the epidemiology of the specific types is largely unknown. EDS affects both sexes and has no racial predisposition (4-6). [comprped.com]
Prevention
Exchange to serum-free medium was necessary to prevent detection of serum-derived complement proteins. [frontiersin.org]
Medical and dental professionals are encouraged to see these patients willingly but carefully in order to deliver atraumatic, gentle care with a more preventive approach. Acknowledgements Footnote References 1. Mao JR, Bristow J. [comprped.com]
As a preventive measure we advised the patient to limit her mandibular movements in order to avoid the risk of luxation or subluxation. Surgery of the TMJ is only contemplated as a last resort to correct luxation or subluxation. [cda-adc.ca]