[Ehler-Danlos syndrome type VIII].
Identifieur interne : 001A12 ( PubMed/Corpus ); précédent : 001A11; suivant : 001A13[Ehler-Danlos syndrome type VIII].
Auteurs : L. Ciarloni ; C. Perrigouard ; D. Lipsker ; B. CribierSource :
- Annales de dermatologie et de venereologie [ 0151-9638 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- classification : Ehlers-Danlos Syndrome.
- diagnosis : Ehlers-Danlos Syndrome, Marfan Syndrome.
- etiology : Leg Ulcer, Mouth, Edentulous.
- Adult, Diagnosis, Differential, Humans, Male.
Abstract
Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late.
DOI: 10.1016/j.annder.2009.11.009
PubMed: 20227561
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pubmed:20227561Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">[Ehler-Danlos syndrome type VIII].</title><author><name sortKey="Ciarloni, L" sort="Ciarloni, L" uniqKey="Ciarloni L" first="L" last="Ciarloni">L. Ciarloni</name><affiliation><nlm:affiliation>Clinique dermatologique, faculté de médecine, université de Strasbourg, hôpitaux universitaires de Strasbourg, 67091 Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Perrigouard, C" sort="Perrigouard, C" uniqKey="Perrigouard C" first="C" last="Perrigouard">C. Perrigouard</name></author><author><name sortKey="Lipsker, D" sort="Lipsker, D" uniqKey="Lipsker D" first="D" last="Lipsker">D. Lipsker</name></author><author><name sortKey="Cribier, B" sort="Cribier, B" uniqKey="Cribier B" first="B" last="Cribier">B. Cribier</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="RBID">pubmed:20227561</idno><idno type="pmid">20227561</idno><idno type="doi">10.1016/j.annder.2009.11.009</idno><idno type="wicri:Area/PubMed/Corpus">001A12</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001A12</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Ehler-Danlos syndrome type VIII].</title><author><name sortKey="Ciarloni, L" sort="Ciarloni, L" uniqKey="Ciarloni L" first="L" last="Ciarloni">L. Ciarloni</name><affiliation><nlm:affiliation>Clinique dermatologique, faculté de médecine, université de Strasbourg, hôpitaux universitaires de Strasbourg, 67091 Strasbourg, France.</nlm:affiliation></affiliation></author><author><name sortKey="Perrigouard, C" sort="Perrigouard, C" uniqKey="Perrigouard C" first="C" last="Perrigouard">C. Perrigouard</name></author><author><name sortKey="Lipsker, D" sort="Lipsker, D" uniqKey="Lipsker D" first="D" last="Lipsker">D. Lipsker</name></author><author><name sortKey="Cribier, B" sort="Cribier, B" uniqKey="Cribier B" first="B" last="Cribier">B. Cribier</name></author></analytic><series><title level="j">Annales de dermatologie et de venereologie</title><idno type="ISSN">0151-9638</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Diagnosis, Differential</term><term>Ehlers-Danlos Syndrome (classification)</term><term>Ehlers-Danlos Syndrome (diagnosis)</term><term>Humans</term><term>Leg Ulcer (etiology)</term><term>Male</term><term>Marfan Syndrome (diagnosis)</term><term>Mouth, Edentulous (etiology)</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Ehlers-Danlos Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ehlers-Danlos Syndrome</term><term>Marfan Syndrome</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Leg Ulcer</term><term>Mouth, Edentulous</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Diagnosis, Differential</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20227561</PMID><DateCompleted><Year>2010</Year><Month>06</Month><Day>10</Day></DateCompleted><DateRevised><Year>2010</Year><Month>03</Month><Day>15</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">0151-9638</ISSN><JournalIssue CitedMedium="Print"><Volume>137</Volume><Issue>3</Issue><PubDate><Year>2010</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Annales de dermatologie et de venereologie</Title><ISOAbbreviation>Ann Dermatol Venereol</ISOAbbreviation></Journal><ArticleTitle>[Ehler-Danlos syndrome type VIII].</ArticleTitle><Pagination><MedlinePgn>194-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.annder.2009.11.009</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of diseases involving genetic collagen fibre impairment. We describe a case of a patient presenting the rare type VIII, in which dermatitis ocre was associated with parodontal disease, and which was diagnosed late.</AbstractText><AbstractText Label="CASE REPORT" NlmCategory="METHODS">A 29-year-old man consulted for a pretibial ulcer present for seven years, resulting from a post-traumatic haematoma that had failed to heal. In view of the longiliner morphology, it had previously been diagnosed as Marfan syndrome. Subsequently, edentation was observed as well as "alveolar bone fragility". Examination revealed a marfanoid morphotype, a pretibial ulcer set within long-standing bilateral dermatitis ocre and papyraceous scars, but no joint hyperlaxity or cutaneous hyperelasticity. The diagnosis was consequently corrected to EDS type VIII.</AbstractText><AbstractText Label="DISCUSSION" NlmCategory="CONCLUSIONS">Type VIII is a rare form of EDS, and the molecular mechanism is poorly understood. The involvement of parodontal connective tissue suggests impairment of collagen I and III proteins. It is important to identify this type of the disease since it involves parodontal disease for which early treatment is required in order to try to prevent edentation. The present case demonstrates the importance of diagnosis, which may be based upon appearance of bilateral dermatitis ocre from the age of 15 years associated with skin fragility. This sign is not part of the classical picture of Marfan syndrome, with which EDS type VIII is often confounded.</AbstractText><CopyrightInformation>Copyright 2009 Elsevier Masson SAS. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ciarloni</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Clinique dermatologique, faculté de médecine, université de Strasbourg, hôpitaux universitaires de Strasbourg, 67091 Strasbourg, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Perrigouard</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Lipsker</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Cribier</LastName><ForeName>B</ForeName><Initials>B</Initials></Author></AuthorList><Language>fre</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D004740">English Abstract</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><VernacularTitle>Syndrome d'Ehlers-Danlos de type VIII.</VernacularTitle><ArticleDate DateType="Electronic"><Year>2009</Year><Month>12</Month><Day>30</Day></ArticleDate></Article><MedlineJournalInfo><Country>France</Country><MedlineTA>Ann Dermatol Venereol</MedlineTA><NlmUniqueID>7702013</NlmUniqueID><ISSNLinking>0151-9638</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003937" MajorTopicYN="N">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004535" MajorTopicYN="N">Ehlers-Danlos Syndrome</DescriptorName><QualifierName UI="Q000145" MajorTopicYN="N">classification</QualifierName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007871" MajorTopicYN="N">Leg Ulcer</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008382" MajorTopicYN="N">Marfan Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009066" MajorTopicYN="N">Mouth, Edentulous</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2009</Year><Month>02</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2009</Year><Month>05</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>3</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>3</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>6</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20227561</ArticleId><ArticleId IdType="pii">S0151-9638(09)00753-4</ArticleId><ArticleId IdType="doi">10.1016/j.annder.2009.11.009</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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