Literature DB >> 21305297

Ehlers-Danlos syndrome: case report and an electron microscopy study.

M Carlesimo1, G Cortesi, A Gamba, A Narcisi, F Turturro, S Raffa, M R Torrisi, G Camplone.   

Abstract

Ehlers-Danlos syndrome (EDS) type III is a inherited connective tissue disorders characterized by extensibility of the skin, hypermobility of the joints, chronic pain, tissue fragility, easy bruising, and delayed wound healing with result of atrophic scars. The patients report commonly a history of recurrent dislocations of the shoulders and knees after low-impact trauma, chronic joint pain, and early osteoarthritis, which lead to diagnosis. The pathogenesis of this condition is unknown, and the diagnosis is generally made in adult age, based only on clinical criteria. In this report, we describe a case of a 50-year-old woman with a 30-year history of recurrent dislocations and atrophic scars. We performed diagnosis of EDS type III after a complete clinical and instrumental evaluation, comprising of histological and electron microscopic studies, that highlighted collagen abnormalities.

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Year:  2011        PMID: 21305297     DOI: 10.1007/s00296-010-1778-6

Source DB:  PubMed          Journal:  Rheumatol Int        ISSN: 0172-8172            Impact factor:   2.631


  9 in total

Review 1.  The molecular genetics of the Ehlers-Danlos syndrome.

Authors:  N P Burrows
Journal:  Clin Exp Dermatol       Date:  1999-03       Impact factor: 3.470

2.  Reduced skin thickness: a new minor diagnostic criterion for the classical and hypermobility types of Ehlers-Danlos syndrome.

Authors:  C Eisenbeiss; A Martinez; M Hagedorn-Greiwe; D P Reinhardt; B Bätge; J Brinckmann
Journal:  Br J Dermatol       Date:  2003-10       Impact factor: 9.302

3.  [Two cases of rehabilitation in Ehler-Danlos syndrome].

Authors:  H Le Tallec; A Lassalle; H Khenioui; A Durufle; R Plassat; P Gallien
Journal:  Ann Readapt Med Phys       Date:  2005-12-20

4.  Ehlers-Danlos syndrome--a historical review.

Authors:  Liakat A Parapia; Carolyn Jackson
Journal:  Br J Haematol       Date:  2008-04       Impact factor: 6.998

5.  Clinical features of Ehlers-Danlos syndrome.

Authors:  Jui-Lung Yen; Shuan-Pei Lin; Ming-Ren Chen; Dau-Ming Niu
Journal:  J Formos Med Assoc       Date:  2006-06       Impact factor: 3.282

6.  Orthopaedic manifestations of Ehlers-Danlos syndrome.

Authors:  D F Stanitski; R Nadjarian; C L Stanitski; E Bawle; P Tsipouras
Journal:  Clin Orthop Relat Res       Date:  2000-07       Impact factor: 4.176

7.  Multiple spontaneous dislocations in a patient with Ehlers-Danlos syndrome.

Authors:  N Dabbas; R Saker; C Blakeley
Journal:  Emerg Med J       Date:  2008-03       Impact factor: 2.740

8.  Difficult intubation during rapid sequence induction in a parturient with Ehlers-Danlos syndrome, hypermobility type.

Authors:  V Sood; D A Robinson; I Suri
Journal:  Int J Obstet Anesth       Date:  2009-09-04       Impact factor: 2.603

9.  A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

Authors:  P Narcisi; A J Richards; S D Ferguson; F M Pope
Journal:  Hum Mol Genet       Date:  1994-09       Impact factor: 6.150

  9 in total
  2 in total

1.  Ehlers-Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes.

Authors:  Marco Castori; Claudia Celletti; Filippo Camerota
Journal:  Rheumatol Int       Date:  2011-12-23       Impact factor: 2.631

2.  Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.

Authors:  Mika Teraishi; Mikiro Takaishi; Kimiko Nakajima; Mitsunori Ikeda; Yujiro Higashi; Shinji Shimoda; Yoshinobu Asada; Atsushi Hijikata; Osamu Ohara; Yoko Hiraki; Seiji Mizuno; Toshiyuki Fukada; Takahisa Furukawa; Nobuaki Wakamatsu; Shigetoshi Sano
Journal:  Sci Rep       Date:  2017-04-19       Impact factor: 4.379

  2 in total

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