Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder....
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| Veröffentlicht in: | Genetics in medicine 2020-10, Vol.22 (10), p.1576-1582 |
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| creator | Green, Claire Ghali, Neeti Akilapa, Rhoda Angwin, Chloe Baker, Duncan Bartlett, Marion Bowen, Jessica Brady, Angela F. Brock, Joanna Chamberlain, Erin Cheema, Harveer McConnell, Vivienne Crookes, Renarta Kazkaz, Hanadi Johnson, Diana Pope, F. Michael Vandersteen, Anthony Sobey, Glenda van Dijk, Fleur S. |
| description | Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder.
Patients diagnosed with clEDS by the national EDS service in the UK (n=21) and abroad (n=1) were asked for consent for publication of their clinical and molecular data.
Of 22 patients, 20 consented. All patients had typical features of clEDS: joint hypermobility, easy bruising, and skin hyperextensibility without atrophic scars. Importantly, 3/20 patients experienced gastrointestinal complications consisting of small or large bowel ruptures and one esophageal rupture. Other notable observations included two separate occurrences of spontaneous compartment syndrome, suspicion of nonaccidental injury due to significant bruising, and significant clinical variability regarding the debilitating effect of joint dislocations.
We propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management. |
| doi_str_mv | 10.1038/s41436-020-0850-1 |
| format | Article |
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Patients diagnosed with clEDS by the national EDS service in the UK (n=21) and abroad (n=1) were asked for consent for publication of their clinical and molecular data.
Of 22 patients, 20 consented. All patients had typical features of clEDS: joint hypermobility, easy bruising, and skin hyperextensibility without atrophic scars. Importantly, 3/20 patients experienced gastrointestinal complications consisting of small or large bowel ruptures and one esophageal rupture. Other notable observations included two separate occurrences of spontaneous compartment syndrome, suspicion of nonaccidental injury due to significant bruising, and significant clinical variability regarding the debilitating effect of joint dislocations.
We propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/s41436-020-0850-1</identifier><identifier>PMID: 32572181</identifier><language>eng</language><publisher>New York: Elsevier Inc</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; Biopsy ; Cell adhesion & migration ; classical-like Ehlers–Danlos syndrome ; Collagen ; Connective tissue ; Contusions ; Deoxyribonucleic acid ; DNA ; Ehlers-Danlos Syndrome - diagnosis ; Ehlers-Danlos Syndrome - genetics ; Esophagus ; Extracellular Matrix ; Genes ; Genetics ; Hospitals ; Human Genetics ; Humans ; Joint Instability - diagnosis ; Joint Instability - genetics ; Laboratory Medicine ; R&D ; Research & development ; Skin Abnormalities ; tenascin-X ; TNXB ; Transmission electron microscopy</subject><ispartof>Genetics in medicine, 2020-10, Vol.22 (10), p.1576-1582</ispartof><rights>2020 The Author(s)</rights><rights>American College of Medical Genetics and Genomics 2020</rights><rights>American College of Medical Genetics and Genomics 2020.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c467t-a04ac59dbd31b6814b49ad9a4141308a6bd1a099edfacddea49af38aca9728583</citedby><cites>FETCH-LOGICAL-c467t-a04ac59dbd31b6814b49ad9a4141308a6bd1a099edfacddea49af38aca9728583</cites><orcidid>0000-0001-6341-169X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32572181$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Green, Claire</creatorcontrib><creatorcontrib>Ghali, Neeti</creatorcontrib><creatorcontrib>Akilapa, Rhoda</creatorcontrib><creatorcontrib>Angwin, Chloe</creatorcontrib><creatorcontrib>Baker, Duncan</creatorcontrib><creatorcontrib>Bartlett, Marion</creatorcontrib><creatorcontrib>Bowen, Jessica</creatorcontrib><creatorcontrib>Brady, Angela F.</creatorcontrib><creatorcontrib>Brock, Joanna</creatorcontrib><creatorcontrib>Chamberlain, Erin</creatorcontrib><creatorcontrib>Cheema, Harveer</creatorcontrib><creatorcontrib>McConnell, Vivienne</creatorcontrib><creatorcontrib>Crookes, Renarta</creatorcontrib><creatorcontrib>Kazkaz, Hanadi</creatorcontrib><creatorcontrib>Johnson, Diana</creatorcontrib><creatorcontrib>Pope, F. Michael</creatorcontrib><creatorcontrib>Vandersteen, Anthony</creatorcontrib><creatorcontrib>Sobey, Glenda</creatorcontrib><creatorcontrib>van Dijk, Fleur S.</creatorcontrib><title>Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder.
Patients diagnosed with clEDS by the national EDS service in the UK (n=21) and abroad (n=1) were asked for consent for publication of their clinical and molecular data.
Of 22 patients, 20 consented. All patients had typical features of clEDS: joint hypermobility, easy bruising, and skin hyperextensibility without atrophic scars. Importantly, 3/20 patients experienced gastrointestinal complications consisting of small or large bowel ruptures and one esophageal rupture. Other notable observations included two separate occurrences of spontaneous compartment syndrome, suspicion of nonaccidental injury due to significant bruising, and significant clinical variability regarding the debilitating effect of joint dislocations.
We propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Biopsy</subject><subject>Cell adhesion & migration</subject><subject>classical-like Ehlers–Danlos syndrome</subject><subject>Collagen</subject><subject>Connective tissue</subject><subject>Contusions</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Ehlers-Danlos Syndrome - diagnosis</subject><subject>Ehlers-Danlos Syndrome - genetics</subject><subject>Esophagus</subject><subject>Extracellular Matrix</subject><subject>Genes</subject><subject>Genetics</subject><subject>Hospitals</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Joint Instability - diagnosis</subject><subject>Joint Instability - genetics</subject><subject>Laboratory Medicine</subject><subject>R&D</subject><subject>Research & development</subject><subject>Skin Abnormalities</subject><subject>tenascin-X</subject><subject>TNXB</subject><subject>Transmission electron microscopy</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9kc1u1TAQhSMEoj_wAGyQJTZsAmM7Pw6sqksLSJXYwNpy7Ek7xde52Mmt7o4Fb8Ab8iQ4SgGJRVe2db4zY51TFM84vOIg1etU8Uo2JQgoQdVQ8gfFMa9lfsmmeZjv0KlSNgBHxUlKNwC8lQIeF0dS1K3gih8XPzbepETW-NLTV2Tn1x5j-vX95zsT_JhYOgQXxy2-YYZZT2EhmcNkI-0mGgMbByaABbz1B0YOw0QDoWMUHO3JzcYndkvTNcP9olpcDBOlNCMborkiT9PhSfFoyCA-vTtPiy8X5583H8rLT-8_bs4uS1s17VQaqIytO9c7yftG8aqvOuM6k1PgEpRpescNdB26wVjn0GR5kMpY07VC1UqeFi_Xubs4fpsxTXpLyaL3JuA4Jy0q3ohWtCAz-uI_9GacY8i_y1RbA1eVEJniK2XjmFLEQe8ibU08aA56qUivFelckV4q0jx7nt9Nnvstur-OP51kQKxAylK4wvhv9X1T364mzPntKZuSpSVvRxHtpN1I97h_AzX_seA</recordid><startdate>20201001</startdate><enddate>20201001</enddate><creator>Green, Claire</creator><creator>Ghali, Neeti</creator><creator>Akilapa, Rhoda</creator><creator>Angwin, Chloe</creator><creator>Baker, Duncan</creator><creator>Bartlett, Marion</creator><creator>Bowen, Jessica</creator><creator>Brady, Angela F.</creator><creator>Brock, Joanna</creator><creator>Chamberlain, Erin</creator><creator>Cheema, Harveer</creator><creator>McConnell, Vivienne</creator><creator>Crookes, Renarta</creator><creator>Kazkaz, Hanadi</creator><creator>Johnson, Diana</creator><creator>Pope, F. Michael</creator><creator>Vandersteen, Anthony</creator><creator>Sobey, Glenda</creator><creator>van Dijk, Fleur S.</creator><general>Elsevier Inc</general><general>Nature Publishing Group US</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6341-169X</orcidid></search><sort><creationdate>20201001</creationdate><title>Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility</title><author>Green, Claire ; Ghali, Neeti ; Akilapa, Rhoda ; Angwin, Chloe ; Baker, Duncan ; Bartlett, Marion ; Bowen, Jessica ; Brady, Angela F. ; Brock, Joanna ; Chamberlain, Erin ; Cheema, Harveer ; McConnell, Vivienne ; Crookes, Renarta ; Kazkaz, Hanadi ; Johnson, Diana ; Pope, F. 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Michael</creatorcontrib><creatorcontrib>Vandersteen, Anthony</creatorcontrib><creatorcontrib>Sobey, Glenda</creatorcontrib><creatorcontrib>van Dijk, Fleur S.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Green, Claire</au><au>Ghali, Neeti</au><au>Akilapa, Rhoda</au><au>Angwin, Chloe</au><au>Baker, Duncan</au><au>Bartlett, Marion</au><au>Bowen, Jessica</au><au>Brady, Angela F.</au><au>Brock, Joanna</au><au>Chamberlain, Erin</au><au>Cheema, Harveer</au><au>McConnell, Vivienne</au><au>Crookes, Renarta</au><au>Kazkaz, Hanadi</au><au>Johnson, Diana</au><au>Pope, F. Michael</au><au>Vandersteen, Anthony</au><au>Sobey, Glenda</au><au>van Dijk, Fleur S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2020-10-01</date><risdate>2020</risdate><volume>22</volume><issue>10</issue><spage>1576</spage><epage>1582</epage><pages>1576-1582</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder.
Patients diagnosed with clEDS by the national EDS service in the UK (n=21) and abroad (n=1) were asked for consent for publication of their clinical and molecular data.
Of 22 patients, 20 consented. All patients had typical features of clEDS: joint hypermobility, easy bruising, and skin hyperextensibility without atrophic scars. Importantly, 3/20 patients experienced gastrointestinal complications consisting of small or large bowel ruptures and one esophageal rupture. Other notable observations included two separate occurrences of spontaneous compartment syndrome, suspicion of nonaccidental injury due to significant bruising, and significant clinical variability regarding the debilitating effect of joint dislocations.
We propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management.</abstract><cop>New York</cop><pub>Elsevier Inc</pub><pmid>32572181</pmid><doi>10.1038/s41436-020-0850-1</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0001-6341-169X</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Biomedical and Life Sciences Biomedicine Biopsy Cell adhesion & migration classical-like Ehlers–Danlos syndrome Collagen Connective tissue Contusions Deoxyribonucleic acid DNA Ehlers-Danlos Syndrome - diagnosis Ehlers-Danlos Syndrome - genetics Esophagus Extracellular Matrix Genes Genetics Hospitals Human Genetics Humans Joint Instability - diagnosis Joint Instability - genetics Laboratory Medicine R&D Research & development Skin Abnormalities tenascin-X TNXB Transmission electron microscopy |
| title | Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility |
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