Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 742-747

  Reinstein, Eyal ^a   Wang, Raymond Y ^b   Zhan, Ling ^c   Rimoin, David L ^a   Wilcox, William R ^a,d  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Connective tissue; Ehlers Danlos syndrome; Genetic heterogeneity; Periodontal disease

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; FACE DYSMORPHIA; FAMILY STUDY; FEMALE; FLATFOOT; GENE LOCUS; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; JOINT DISLOCATION; JOINT HYPERMOBILITY; MALE; ONSET AGE; OSTEOARTHRITIS; PEDIGREE ANALYSIS; PERIODONTITIS; PHENOTYPE; PRIORITY JOURNAL; SCAR FORMATION; SCHOOL CHILD; SCOLIOSIS; SKIN DISEASE; SKIN FRAGILITY; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PERIODONTITIS; PHENOTYPE; SYNDROME; YOUNG ADULT;

EID: 79953328065     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33914     Document Type: Article

References (33)

1. Apaydin A. 1995. Ehlers-Danlos syndrome (type VIII). J Nihon Univ Sch Dent 37: 214-217.
2. Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, Hall JG, Hollister DW, Horton W, McKusick VA, Opitz JM, Pope FM, Pyeritz RE, Rimoin DL, Sillence D, Spranger JW, Thompson E, Tsipouras P, Viljoen D, Winship I, Young I, Reynolds JF. 1988. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986. Am J Med Genet 29: 581-594.
3. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. 1998. Ehlers-Danlos Syndromes: Revised Nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77: 31-37.
4. Biesecker LG, Erickson RP, Glover TW, Bonadio J. 1991. Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII. Am J Med Genet 41: 284-288.
5. Biro F, Gewanter HL, Baum J. 1983. The hypermobility syndrome. Pediatrics 72: 701-706.
6. Bond PJ, Friend GW, Meridith MW. 1993. Ehlers-Danlos syndrome identified from periodontal findings: Case report. Pediatr Dent 15: 212-213.
7. Buckel T, Zaenglein AL. 2007. What syndrome is this? Ehlers-Danlos syndrome type VIII. Pediatr Dermatol 24: 189-191.
8. Byers PH, Schwarze U. 2007. Ehlers-Danlos syndrome. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Emery and Rimoin's principles and practice of medical genetics, 5th edition. New York: Elsevier, Churchill-Livingstone. pp. 3625-3646.
9. Castori M, Camerota F, Celletti C, Danese C, Santilli V, Saraceni VM, Grammatico P. 2010. Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: A pilot study on 21 patients. Am J Med Genet 152: 556-564.
10. Cunniff C, Williamson-Kruse L. 1995. Ehlers-Danlos Syndrome, Type VIII presenting with periodontitis and prolonged bleeding time. Clin Dysmorphol 4: 145-149.
11. Dyne KM, Vitellaro-Zuccarello L, Bacchella L, Lanzi G, Cetta G. 1993. Ehlers-Danlos syndrome Type VIII: Biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth. Br J Dermatol 128: 458-463.
12. Hart TC, Atkinson JC. 2007. Mendelian forms of periodontitis. Periodontology 45: 95-112.
13. Hartsfield JK Jr, Kousseff BG. 1990. Phenotypic overlap of Ehlers-Danlos Syndrome types IV and VIII. Am J Med Genet 37: 465-470.
14. Hernández A, Aguirre-Negrete MG, Ramírez-Soltero S, González-Mendoza A, Martínez y, Martínez R, Velázquez-Cabrera A, Cantú JM. 1979. A distinct variant of the Ehlers-Danlos syndrome. Clin Genet 16: 335-339.
15. Hoffman GS, Filie JD, Schumacher HR Jr, Ortiz-Bravo E, Tsokos MG, Marini JC, Kerr GS, Ling QH, Trentham DE. 1991. Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome. Arthritis Rheum 34: 1466-1475.
16. Karrer S, Landthaler M, Schmalz G. 2000. Ehlers-Danlos type VIII. Review of the literature. Clin Oral Investig 4: 66-69.
17. Khalili J. 2008. Periodontal disease: An overview for medical practitioners. Lik Sprava 3-4: 10-21.
18. Lapiere CM, Nusgens BV. 1981. Ehlers-Danlos type VIII skin has a reduced proportion of collagen type III. J Invest Dermatol 76: 422.
19. Linch DC, Acton CH. 1979. Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis. Br Dent J 147: 95-996.
20. Mataix J, Bañuls J, Muñoz C, Bermejo A, Climent JM. 2008. Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. Br J Dermatol 158: 825-830.
21. McKusick VA. 1972. Heritable disorders of connective tissue, 4th edition. St Louis: Mosby.
22. Moore MM, Votava JM, Orlow SJ, Schaffer JV. 2006. Ehlers-Danlos syndrome type VIII: Periodontitis, easy bruising, marfanoid habitus, and distinctive facies. J Am Acad Dermatol 55: S41-S45.
23. Nelson DL, King RA. 1981. Ehlers-Danlos syndrome type VIII. J Am Acad Dermatol 5: 297-303.
24. Papapanou PN. 1999. Epidemiology of periodontal diseases: An update. J Int Acad Periodontol 1: 110-116.
25. Perez LA, Al-Shammari KF, Giannobile WV, Wang HL. 2002. Treatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review. J Periodontol 73: 564-570.
26. Pope FM, Komorowska A, Lee KW, Speight P, Zorawska H, Ranta H, Coonar HS, MacKenzie JL. 1992. Ehlers Danlos syndrome type I with novel dental features. J Oral Pathol Med 21: 418-421.
27. Rahman N, Dunstan M, Teare MD, Hanks S, Douglas J, Coleman K, Bottomly WE, Campbell ME, Berglund B, Nordenskjold M, Forssell B, Burrows N, Lunt P, Young I, Williams N, Bignell GR, Futreal PA, Pope FM. 2003. Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet 73: 198-204.
28. Saito M, Nishida E, Sasaki T, Yoneda T, Shimizu N. 2009. The KK-Periome database for transcripts of periodontal ligament development. J Exp Zool B Mol Dev Evol 312B: 495-502.
29. Seçkin U, Tur BS, Yilmaz O, Yaǧci I, Bodur H, Arasil T. 2005. The prevalence of joint hypermobility among high school students. Rheumatol Int 25: 260-263.
30. Spranger S, Spranger M, Kirchhof K, Steinmann B. 1996. Ehlers-Danlos syndrome type VIII and leukodystrophy. Am J Med Genet 66: 239-240.
31. Stewart RE, Hollister DW, Rimoin DL. 1977. A new variant of Ehlers-Danlos syndrome: An autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. Birth Defects 13: 85-93.
32. Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, Cassidy SB, Ramirez F. 1986. Ehlers-Danlos syndrome type IV: Cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet 74: 41-46.
33. Yamada S, Murakami S, Matoba R, Ozawa Y, Yokokoji T, Nakahira Y, Ikezawa K, Takayama S, Matsubara K, Okada H. 2001. Expression profile of active genes in human periodontal ligament and isolation of PLAP-1, a novel SLRP family gene. Gene 275: 279-286.