Ehlers–Danlos syndrome: case report and an electron microscopy study
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...
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| Veröffentlicht in: | Rheumatology international 2012-06, Vol.32 (6), p.1507-1510 |
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| container_title | Rheumatology international |
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| creator | Carlesimo, M. Cortesi, G. Gamba, A. Narcisi, A. Turturro, F. Raffa, S. Torrisi, M. R. Camplone, G. |
| description | 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. |
| doi_str_mv | 10.1007/s00296-010-1778-6 |
| format | Article |
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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.</description><identifier>ISSN: 0172-8172</identifier><identifier>EISSN: 1437-160X</identifier><identifier>DOI: 10.1007/s00296-010-1778-6</identifier><identifier>PMID: 21305297</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Biopsy ; Dermis - ultrastructure ; Ehlers-Danlos Syndrome - complications ; Ehlers-Danlos Syndrome - diagnosis ; Ehlers-Danlos Syndrome - genetics ; Ehlers-Danlos Syndrome - pathology ; Female ; Fibrillar Collagens - ultrastructure ; Humans ; Joint Dislocations - etiology ; Joint Instability - etiology ; Medicine ; Medicine & Public Health ; Microscopy, Electron, Transmission ; Middle Aged ; Original Article ; Predictive Value of Tests ; Recurrence ; Rheumatology</subject><ispartof>Rheumatology international, 2012-06, Vol.32 (6), p.1507-1510</ispartof><rights>Springer-Verlag 2011</rights><rights>Springer-Verlag 2012</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-p179t-d8219483c15f5b2d6179b36d6f876348dc3aa4a61204409c6f93fa5cded808933</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00296-010-1778-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00296-010-1778-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21305297$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Carlesimo, M.</creatorcontrib><creatorcontrib>Cortesi, G.</creatorcontrib><creatorcontrib>Gamba, A.</creatorcontrib><creatorcontrib>Narcisi, A.</creatorcontrib><creatorcontrib>Turturro, F.</creatorcontrib><creatorcontrib>Raffa, S.</creatorcontrib><creatorcontrib>Torrisi, M. R.</creatorcontrib><creatorcontrib>Camplone, G.</creatorcontrib><title>Ehlers–Danlos syndrome: case report and an electron microscopy study</title><title>Rheumatology international</title><addtitle>Rheumatol Int</addtitle><addtitle>Rheumatol Int</addtitle><description>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.</description><subject>Biopsy</subject><subject>Dermis - ultrastructure</subject><subject>Ehlers-Danlos Syndrome - complications</subject><subject>Ehlers-Danlos Syndrome - diagnosis</subject><subject>Ehlers-Danlos Syndrome - genetics</subject><subject>Ehlers-Danlos Syndrome - pathology</subject><subject>Female</subject><subject>Fibrillar Collagens - ultrastructure</subject><subject>Humans</subject><subject>Joint Dislocations - etiology</subject><subject>Joint Instability - etiology</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Microscopy, Electron, Transmission</subject><subject>Middle Aged</subject><subject>Original Article</subject><subject>Predictive Value of Tests</subject><subject>Recurrence</subject><subject>Rheumatology</subject><issn>0172-8172</issn><issn>1437-160X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNpNkMFOwzAMhiMEYmPwAFxQJc4BJ2mTlBsaGyBN4gIStyhLUtjUNiVpD73xDrwhT0KmgcTBtmx_-i3_CJ0TuCIA4joC0JJjIICJEBLzAzQlOROYcHg9RFMggmKZ0gSdxLiF1HMOx2hCCYOClmKKlov32oX4_fl1p9vaxyyOrQ2-cTeZ0dFlwXU-9JlubYrM1c70wbdZszHBR-O7MYv9YMdTdFTpOrqz3zpDL8vF8_wBr57uH-e3K9wRUfbYSkrKXDJDiqpYU8vTdM245ZUUnOXSGqZ1rjmhkOdQGl6VrNKFsc5KkCVjM3S51-2C_xhc7NXWD6FNJxWBnQdFwWWiLn6pYd04q7qwaXQY1d_bCaB7IKZV--bCfxm181btvVWw65Ou4uwHeUJpvg</recordid><startdate>20120601</startdate><enddate>20120601</enddate><creator>Carlesimo, M.</creator><creator>Cortesi, G.</creator><creator>Gamba, A.</creator><creator>Narcisi, A.</creator><creator>Turturro, F.</creator><creator>Raffa, S.</creator><creator>Torrisi, M. 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R.</au><au>Camplone, G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ehlers–Danlos syndrome: case report and an electron microscopy study</atitle><jtitle>Rheumatology international</jtitle><stitle>Rheumatol Int</stitle><addtitle>Rheumatol Int</addtitle><date>2012-06-01</date><risdate>2012</risdate><volume>32</volume><issue>6</issue><spage>1507</spage><epage>1510</epage><pages>1507-1510</pages><issn>0172-8172</issn><eissn>1437-160X</eissn><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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>21305297</pmid><doi>10.1007/s00296-010-1778-6</doi><tpages>4</tpages></addata></record> |
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| subjects | Biopsy Dermis - ultrastructure Ehlers-Danlos Syndrome - complications Ehlers-Danlos Syndrome - diagnosis Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - pathology Female Fibrillar Collagens - ultrastructure Humans Joint Dislocations - etiology Joint Instability - etiology Medicine Medicine & Public Health Microscopy, Electron, Transmission Middle Aged Original Article Predictive Value of Tests Recurrence Rheumatology |
| title | Ehlers–Danlos syndrome: case report and an electron microscopy study |
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