Document Detail


Ehlers-Danlos syndrome: case report and an electron microscopy study.
MedLine Citation:
PMID:  21305297     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Carlesimo; G Cortesi; A Gamba; A Narcisi; F Turturro; S Raffa; M R Torrisi; G Camplone
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2011-02-09
Journal Detail:
Title:  Rheumatology international     Volume:  32     ISSN:  1437-160X     ISO Abbreviation:  Rheumatol. Int.     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-31     Completed Date:  2012-12-07     Revised Date:  2013-04-01    
Medline Journal Info:
Nlm Unique ID:  8206885     Medline TA:  Rheumatol Int     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1507-10     Citation Subset:  IM    
Affiliation:
Dermatology Unit, S. Andrea Hospital, II School of Medicine, University of Rome Sapienza, Rome, Italy.
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MeSH Terms
Descriptor/Qualifier:
Biopsy
Dermis / ultrastructure*
Dislocations / etiology
Ehlers-Danlos Syndrome / complications,  diagnosis*,  genetics,  pathology
Female
Fibrillar Collagens / ultrastructure*
Humans
Joint Instability / etiology
Microscopy, Electron, Transmission*
Middle Aged
Predictive Value of Tests
Recurrence
Chemical
Reg. No./Substance:
0/Fibrillar Collagens
Comments/Corrections
Comment In:
Rheumatol Int. 2013 Mar;33(3):819-21   [PMID:  22193218 ]

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