Literature DB >> 7606321

Ehlers-Danlos syndrome, type VIII presenting with periodontitis and prolonged bleeding time.

C Cunniff1, L Williamson-Kruse.   

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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Year:  1995        PMID: 7606321

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  5 in total

1.  Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Authors:  Nazneen Rahman; Melanie Dunstan; M Dawn Teare; Sandra Hanks; Jenny Douglas; Kim Coleman; William E Bottomly; Mary E Campbell; Britta Berglund; Magnus Nordenskjöld; Bengt Forssell; Nigel Burrows; Peter Lunt; Ian Young; Nigel Williams; Graham R Bignell; P Andrew Futreal; F Michael Pope
Journal:  Am J Hum Genet       Date:  2003-05-29       Impact factor: 11.025

2.  Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.

Authors:  Eyal Reinstein; Celia Dawn DeLozier; Ziv Simon; Serguei Bannykh; David L Rimoin; Cynthia J Curry
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

3.  PREDICTED STRUCTURE AND BINDING MOTIFS OF COLLAGEN α1(XI).

Authors:  Owen M McDougal; Lisa R Warner; Chris Mallory; Julia Thom Oxford
Journal:  GSTF Int J Bioinforma Biotechnol       Date:  2011-12

4.  Type VIII - Ehlers Danlos Syndrome with café-au-lait macules: A Rare Variant.

Authors:  Ramesh M Bhat; Nandini S Ankadavar; Srinath M Kambil; Nelee Bisen
Journal:  Indian J Dermatol       Date:  2014-05       Impact factor: 1.494

5.  Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).

Authors:  Ulaş Cıkla; Alireza Sadighi; Andrew Bauer; Mustafa K Başkaya
Journal:  J Neurol Surg Rep       Date:  2014-08-11
  5 in total

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