Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII
Identifieur interne : 005832 ( Istex/Corpus ); précédent : 005831; suivant : 005833Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII
Auteurs : James K. Hartsfield Jr. ; Boris G. KousseffSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1990-12.
English descriptors
- KwdEn :
- Abnormal type, Alveolar bone loss, Atrophic scars, Biochemical analysis, Biochemical defect, Bruisability, Byers, Centile, Chief complaint, Cigarette paper scars, Clinical manifestations, Clinical sign, Collagen, Collagen formation, Collagen type, Collagenous proteins, Connective tissue, Considerable overlap, Cultured skin fibroblasts, Early periodontitis, Easy bruisability, Ecchymotic, Ecchymotic pretibial lesions, Fibroblast, First report, Fragile skin, Further studies, Genet byers, Hand length, Heritable disorders, Joint hypermobility, Joint laxity, Lesion, Lysyl hydroxylase, Lysyl hydroxylase activity, Mandibular, Marfanoid habitus, Maxillary right, Mckusick, Medical genetics, Mendelian inheritance, Necrobiosis lipoidica diabeticorum, Online version, Periodontal, Periodontal disease, Periodontitis, Permanent teeth, Pretibial lesions, Same laboratory, Severe periodontitis, Structural defect, Syndrome, Syndrome type, Thin skin, Third finger length, Tooth mobility, Total collagen, Total hand length, Type viii, Variable gingival recession, Varicose veins, Venous pattern, Viii.
- Teeft :
- Abnormal type, Alveolar bone loss, Atrophic scars, Biochemical analysis, Biochemical defect, Bruisability, Byers, Centile, Chief complaint, Cigarette paper scars, Clinical manifestations, Clinical sign, Collagen, Collagen formation, Collagen type, Collagenous proteins, Connective tissue, Considerable overlap, Cultured skin fibroblasts, Early periodontitis, Easy bruisability, Ecchymotic, Ecchymotic pretibial lesions, Fibroblast, First report, Fragile skin, Further studies, Genet byers, Hand length, Heritable disorders, Joint hypermobility, Joint laxity, Lesion, Lysyl hydroxylase, Lysyl hydroxylase activity, Mandibular, Marfanoid habitus, Maxillary right, Mckusick, Medical genetics, Mendelian inheritance, Necrobiosis lipoidica diabeticorum, Online version, Periodontal, Periodontal disease, Periodontitis, Permanent teeth, Pretibial lesions, Same laboratory, Severe periodontitis, Structural defect, Syndrome, Syndrome type, Thin skin, Third finger length, Tooth mobility, Total collagen, Total hand length, Type viii, Variable gingival recession, Varicose veins, Venous pattern, Viii.
Abstract
An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.
Url:
DOI: 10.1002/ajmg.1320370408
Links to Exploration step
ISTEX:B0D02335EC3B37758D8F7B83EB379CD129DB1BA9Le document en format XML
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hypermobility</term><term>Joint laxity</term><term>Lesion</term><term>Lysyl hydroxylase</term><term>Lysyl hydroxylase activity</term><term>Mandibular</term><term>Marfanoid habitus</term><term>Maxillary right</term><term>Mckusick</term><term>Medical genetics</term><term>Mendelian inheritance</term><term>Necrobiosis lipoidica diabeticorum</term><term>Online version</term><term>Periodontal</term><term>Periodontal disease</term><term>Periodontitis</term><term>Permanent teeth</term><term>Pretibial lesions</term><term>Same laboratory</term><term>Severe periodontitis</term><term>Structural defect</term><term>Syndrome</term><term>Syndrome type</term><term>Thin skin</term><term>Third finger length</term><term>Tooth mobility</term><term>Total collagen</term><term>Total hand length</term><term>Type viii</term><term>Variable gingival recession</term><term>Varicose veins</term><term>Venous pattern</term><term>Viii</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abnormal type</term><term>Alveolar bone loss</term><term>Atrophic scars</term><term>Biochemical analysis</term><term>Biochemical defect</term><term>Bruisability</term><term>Byers</term><term>Centile</term><term>Chief complaint</term><term>Cigarette paper scars</term><term>Clinical manifestations</term><term>Clinical sign</term><term>Collagen</term><term>Collagen formation</term><term>Collagen type</term><term>Collagenous proteins</term><term>Connective tissue</term><term>Considerable overlap</term><term>Cultured skin fibroblasts</term><term>Early periodontitis</term><term>Easy bruisability</term><term>Ecchymotic</term><term>Ecchymotic pretibial lesions</term><term>Fibroblast</term><term>First report</term><term>Fragile skin</term><term>Further studies</term><term>Genet byers</term><term>Hand length</term><term>Heritable disorders</term><term>Joint hypermobility</term><term>Joint laxity</term><term>Lesion</term><term>Lysyl hydroxylase</term><term>Lysyl hydroxylase activity</term><term>Mandibular</term><term>Marfanoid habitus</term><term>Maxillary right</term><term>Mckusick</term><term>Medical genetics</term><term>Mendelian inheritance</term><term>Necrobiosis lipoidica diabeticorum</term><term>Online version</term><term>Periodontal</term><term>Periodontal disease</term><term>Periodontitis</term><term>Permanent teeth</term><term>Pretibial lesions</term><term>Same laboratory</term><term>Severe periodontitis</term><term>Structural defect</term><term>Syndrome</term><term>Syndrome type</term><term>Thin skin</term><term>Third finger length</term><term>Tooth mobility</term><term>Total collagen</term><term>Total hand length</term><term>Type viii</term><term>Variable gingival recession</term><term>Varicose veins</term><term>Venous pattern</term><term>Viii</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>viii</json:string><json:string>periodontitis</json:string><json:string>centile</json:string><json:string>type viii</json:string><json:string>early periodontitis</json:string><json:string>mckusick</json:string><json:string>byers</json:string><json:string>periodontal</json:string><json:string>mandibular</json:string><json:string>bruisability</json:string><json:string>ecchymotic</json:string><json:string>fibroblast</json:string><json:string>collagen</json:string><json:string>alveolar bone loss</json:string><json:string>periodontal disease</json:string><json:string>easy bruisability</json:string><json:string>syndrome</json:string><json:string>clinical manifestations</json:string><json:string>cigarette paper scars</json:string><json:string>abnormal type</json:string><json:string>medical genetics</json:string><json:string>atrophic scars</json:string><json:string>considerable overlap</json:string><json:string>collagenous proteins</json:string><json:string>syndrome type</json:string><json:string>cultured skin fibroblasts</json:string><json:string>chief complaint</json:string><json:string>same laboratory</json:string><json:string>tooth mobility</json:string><json:string>further studies</json:string><json:string>lysyl hydroxylase</json:string><json:string>collagen formation</json:string><json:string>biochemical defect</json:string><json:string>genet byers</json:string><json:string>maxillary right</json:string><json:string>severe periodontitis</json:string><json:string>joint laxity</json:string><json:string>thin skin</json:string><json:string>permanent teeth</json:string><json:string>connective tissue</json:string><json:string>hand length</json:string><json:string>third finger length</json:string><json:string>total hand length</json:string><json:string>variable gingival recession</json:string><json:string>lysyl hydroxylase activity</json:string><json:string>ecchymotic pretibial lesions</json:string><json:string>first report</json:string><json:string>pretibial lesions</json:string><json:string>online version</json:string><json:string>mendelian inheritance</json:string><json:string>necrobiosis lipoidica diabeticorum</json:string><json:string>marfanoid habitus</json:string><json:string>collagen type</json:string><json:string>venous pattern</json:string><json:string>varicose veins</json:string><json:string>clinical sign</json:string><json:string>biochemical analysis</json:string><json:string>total collagen</json:string><json:string>joint hypermobility</json:string><json:string>fragile skin</json:string><json:string>heritable disorders</json:string><json:string>structural defect</json:string><json:string>lesion</json:string></teeft></keywords><author><json:item><name>Dr. James K. Hartsfield Jr.</name><affiliations><json:string>University of South Florida College of Medicine, Department of Pediatrics, Division of Medical Genetics, Tampa</json:string><json:string>Correspondence address: Division of Medical Genetics, Department of Pediatrics, College of Medicine, University of South Florida, Box 15‐G, 12901 Bruce B. Downs Blvd., Tampa, FL 33612‐4799</json:string></affiliations></json:item><json:item><name>Boris G. Kousseff</name><affiliations><json:string>University of South Florida College of Medicine, Department of Pediatrics, Division of Medical Genetics, Tampa</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>differential diagnosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>periodontitis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>collagen</value></json:item></subject><articleId><json:string>AJMG1320370408</json:string></articleId><arkIstex>ark:/67375/WNG-MBDB2DL3-1</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</abstract><qualityIndicators><score>7.496</score><pdfWordCount>3120</pdfWordCount><pdfCharCount>19635</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>6</pdfPageCount><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>198</abstractWordCount><abstractCharCount>1244</abstractCharCount><keywordCount>3</keywordCount></qualityIndicators><title>Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII</title><pmid><json:string>2260589</json:string></pmid><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-8628</json:string></doi><issn><json:string>0148-7299</json:string></issn><eissn><json:string>1096-8628</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>37</volume><issue>4</issue><pages><first>465</first><last>470</last><total>6</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Article</value></json:item></subject></host><namedEntities><unitex><date><json:string>1972</json:string><json:string>1990</json:string><json:string>1980</json:string></date><geogName></geogName><orgName><json:string>National Institute for Dental Research</json:string><json:string>and American Indian</json:string><json:string>LABORATORY RESULTS Bleeding</json:string><json:string>Department of Pediatrics, College of Medicine, University of South Florida, Box</json:string><json:string>Department of Pediatrics, Diuision of Medical Genetics, Tampa An</json:string><json:string>University of South Florida</json:string><json:string>Division of Medical Genetics</json:string><json:string>Wiley-Liss, Inc</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Acton</json:string><json:string>Peter H. Byers</json:string><json:string>Sheldon R. Pinnell</json:string><json:string>Radiographs</json:string><json:string>Robert J. Gorlin</json:string><json:string>The</json:string><json:string>I. Classification</json:string><json:string>Bruce B. Downs</json:string><json:string>Linch</json:string><json:string>James K. Hartsfield</json:string><json:string>Dermatoglyphics</json:string><json:string>McKusick</json:string><json:string>Andrew Alexander</json:string><json:string>Florida College</json:string><json:string>William K. Belton</json:string></persName><placeName><json:string>FL</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Tsipouras et al., 19861</json:string><json:string>Stewart et al. 119771</json:string><json:string>Tsipouras et al. [1986]</json:string><json:string>Lapiere and Nusgens 119811</json:string><json:string>Hartsfield et al.</json:string><json:string>Beighton et al.</json:string><json:string>[1979]</json:string><json:string>Hernandez et al. 119791</json:string><json:string>Byers et al. [1979]</json:string><json:string>Hollister et al.</json:string><json:string>Beighton et al., 1988</json:string><json:string>Pope et al., 19881</json:string><json:string>Tajima and Pinnell 119811</json:string><json:string>Lapiere and Nusgens, 1981</json:string><json:string>Stewart et al., 19771</json:string><json:string>Lapiere and Nusgens 119813</json:string><json:string>Byers et al.</json:string><json:string>[1987]</json:string><json:string>Narayanan and Page, 19831</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-MBDB2DL3-1</json:string></ark><categories><wos></wos><scienceMetrix></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Genetics(clinical)</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>1990</publicationDate><copyrightDate>1990</copyrightDate><doi><json:string>10.1002/ajmg.1320370408</json:string></doi><id>B0D02335EC3B37758D8F7B83EB379CD129DB1BA9</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/B0D02335EC3B37758D8F7B83EB379CD129DB1BA9/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/B0D02335EC3B37758D8F7B83EB379CD129DB1BA9/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/B0D02335EC3B37758D8F7B83EB379CD129DB1BA9/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 1990 Wiley‐Liss, Inc., A Wiley Company</licence></availability><date type="published" when="1990-12"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII</title><title level="a" type="short" xml:lang="en">Ehlers‐Danlos Syndrome</title><author xml:id="author-0000" role="corresp"><persName><addName>Dr.</addName><forename type="first">James K.</forename><surname>Hartsfield Jr.</surname></persName><affiliation>University of South Florida College of Medicine, Department of Pediatrics, Division of Medical Genetics, Tampa<address><country key="US"></country></address></affiliation><affiliation>Division of Medical Genetics, Department of Pediatrics, College of Medicine, University of South Florida, Box 15‐G, 12901 Bruce B. Downs Blvd., Tampa, FL 33612‐4799</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Boris G.</forename><surname>Kousseff</surname></persName><affiliation>University of South Florida College of Medicine, Department of Pediatrics, Division of Medical Genetics, Tampa<address><country key="US"></country></address></affiliation></author><idno type="istex">B0D02335EC3B37758D8F7B83EB379CD129DB1BA9</idno><idno type="ark">ark:/67375/WNG-MBDB2DL3-1</idno><idno type="DOI">10.1002/ajmg.1320370408</idno><idno type="unit">AJMG1320370408</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320370408.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/ajmg.v37:4</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">37</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="465">465</biblScope><biblScope unit="page" to="470">470</biblScope><biblScope unit="page-count">6</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1990-12"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">differential diagnosis</term><term xml:id="kwd2">periodontitis</term><term xml:id="kwd3">collagen</term></keywords><keywords rend="articleCategory"><term>Article</term></keywords><keywords rend="tocHeading1"><term>Articles</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/B0D02335EC3B37758D8F7B83EB379CD129DB1BA9/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. J. Med. Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="40"><doi origin="wiley" registered="yes">10.1002/ajmg.v37:4</doi><numberingGroup><numbering type="journalVolume" number="37">37</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="1990-12">December 1990</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="8" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.1320370408</doi><idGroup><id type="unit" value="AJMG1320370408"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="publisher">Copyright © 1990 Wiley‐Liss, Inc., A Wiley Company</copyright><eventGroup><event type="manuscriptReceived" date="1989-02-27"></event><event type="manuscriptRevised" date="1990-05-24"></event><event type="firstOnline" date="2005-06-06"></event><event type="publishedOnlineFinalForm" date="2005-06-06"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.9 mode:FullText" date="2010-06-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">465</numbering><numbering type="pageLast">470</numbering></numberingGroup><correspondenceTo>Division of Medical Genetics, Department of Pediatrics, College of Medicine, University of South Florida, Box 15‐G, 12901 Bruce B. Downs Blvd., Tampa, FL 33612‐4799</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1320370408.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="7"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="18"></count></countGroup><titleGroup><title type="main" xml:lang="en">Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII</title><title type="short" xml:lang="en">Ehlers‐Danlos Syndrome</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><honorifics>Dr.</honorifics><givenNames>James K.</givenNames><familyName>Hartsfield Jr.</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Boris G.</givenNames><familyName>Kousseff</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>University of South Florida College of Medicine, Department of Pediatrics, Division of Medical Genetics, Tampa</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">differential diagnosis</keyword><keyword xml:id="kwd2">periodontitis</keyword><keyword xml:id="kwd3">collagen</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Ehlers‐Danlos Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="given">James K.</namePart><namePart type="family">Hartsfield Jr.</namePart><affiliation>University of South Florida College of Medicine, Department of Pediatrics, Division of Medical Genetics, Tampa</affiliation><affiliation>Correspondence address: Division of Medical Genetics, Department of Pediatrics, College of Medicine, University of South Florida, Box 15‐G, 12901 Bruce B. Downs Blvd., Tampa, FL 33612‐4799</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Boris G.</namePart><namePart type="family">Kousseff</namePart><affiliation>University of South Florida College of Medicine, Department of Pediatrics, Division of Medical Genetics, Tampa</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1990-12</dateIssued><dateCaptured encoding="w3cdtf">1989-02-27</dateCaptured><copyrightDate encoding="w3cdtf">1990</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">7</extent><extent unit="tables">3</extent><extent unit="references">18</extent></physicalDescription><abstract lang="en">An 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.</abstract><subject lang="en"><genre>keywords</genre><topic>differential diagnosis</topic><topic>periodontitis</topic><topic>collagen</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. 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