Ehlers–Danlos type VIII, periodontitis‐type: Further delineation of the syndrome in a four‐generation pedigree
Author(s) -
Reinstein Eyal,
Wang Raymond Y.,
Zhan Ling,
Rimoin David L.,
Wilcox William R.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33914
Subject(s) - periodontitis , ehlers–danlos syndrome , medicine , type (biology) , dentistry , dermatology , genetics , biology , paleontology
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. © 2011 Wiley‐Liss, Inc.