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

Eyal Reinstein, Raymond Y. Wang, Ling Zhan, David L. Rimoin, William R. Wilcox

Research output: Contribution to journalArticlepeer-review

Abstract

The periodontitis type of Ehlers-Danlos syndrome (EDS type VIII) is distinguished from other subtypes of EDS by severe periodontitis leading to premature loss of permanent teeth. A limited number of patients and pedigrees with this condition have been described. We report a four-generation EDS VIII kindred with a phenotype of joint hypermobility, normal scar formation but eventual scar atrophy, and severe periodontal disease. Similar to other subtypes of EDS, the age of onset and severity of symptoms were variable amongst affected individuals, confirming the presence of intra-familial variability in this subtype. This pedigree is not linked to the previously reported region, confirming genetic locus heterogeneity in EDS type VIII.

Original languageEnglish
Pages (from-to)742-747
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number4
DOIs
StatePublished - Apr 2011
Externally publishedYes

Keywords

  • Connective tissue
  • Ehlers-Danlos syndrome
  • Genetic heterogeneity
  • Periodontal disease

Fingerprint

Dive into the research topics of 'Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree'. Together they form a unique fingerprint.

Cite this