Literature DB >> 7263975

Ehlers-Danlos syndrome type VIII.

D L Nelson, R A King.   

Abstract

The Ehlers-Danlos syndrome (EDS) is a group of inherited disorders of connective tissue characterized by joint hypermobility, cutaneous hyperextensibility, and tissue fragility. At least nine subgroups of the disease have been described, each with a characteristic clinical pattern or unique biochemical defect. We describe three members of a family with the constellation of findings diagnostic of EDS type VIII. The trait first manifests in childhood, when minor trauma produces ecchymoses, which resolve normally except on th shins. The pretibial skin heals with distinct hyperpigmented atrophic scars. There is no hyperextensibility of the skin, nor evidence of visceral involvement. Minimal joint hypermobility was noted in one patient. Early onset of periodontal disease, with loss of the permanent teeth, is characteristic. EDS type VIII is inherited as an autosomal dominant trait.

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Year:  1981        PMID: 7263975     DOI: 10.1016/s0190-9622(81)70095-1

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  6 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

Review 2.  Ehlers-Danlos syndrome has varied molecular mechanisms.

Authors:  F M Pope; N P Burrows
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

3.  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

4.  Periodontal conditions in Williams Beuren syndrome: a series of 8 cases.

Authors:  C Joseph; M M Landru; F Bdeoui; B Gogly; S M Dridi
Journal:  Eur Arch Paediatr Dent       Date:  2008-09

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

6.  Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Authors:  Ines Kapferer-Seebacher; Melanie Pepin; Roland Werner; Timothy J Aitman; Ann Nordgren; Heribert Stoiber; Nicole Thielens; Christine Gaboriaud; Albert Amberger; Anna Schossig; Robert Gruber; Cecilia Giunta; Michael Bamshad; Erik Björck; Christina Chen; David Chitayat; Michael Dorschner; Marcus Schmitt-Egenolf; Christopher J Hale; David Hanna; Hans Christian Hennies; Irene Heiss-Kisielewsky; Anna Lindstrand; Pernilla Lundberg; Anna L Mitchell; Deborah A Nickerson; Eyal Reinstein; Marianne Rohrbach; Nikolaus Romani; Matthias Schmuth; Rachel Silver; Fulya Taylan; Anthony Vandersteen; Jana Vandrovcova; Ruwan Weerakkody; Margaret Yang; F Michael Pope; Peter H Byers; Johannes Zschocke
Journal:  Am J Hum Genet       Date:  2016-10-13       Impact factor: 11.025

  6 in total

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