Fabry disease and the skin: data from FOS, the Fabry outcome survey
Identifieur interne : 002414 ( Istex/Corpus ); précédent : 002413; suivant : 002415Fabry disease and the skin: data from FOS, the Fabry outcome survey
Auteurs : C. H. Orteu ; T. Jansen ; O. Lidove ; R. Jaussaud ; D. A. Hughes ; G. Pintos-Morell ; U. Ramaswami ; R. Parini ; G. Sunder-Plassman ; M. Beck ; A. B. MehtaSource :
- British Journal of Dermatology [ 0007-0963 ] ; 2007-08.
Abstract
Background Fabry disease (also known as Anderson–Fabry disease) is a rare, X‐linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.
Url:
DOI: 10.1111/j.1365-2133.2007.08002.x
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Jaussaud</name><affiliation><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation></affiliation></author><author><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D. A." last="Hughes">D. A. Hughes</name><affiliation><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation></affiliation></author><author><name sortKey="Pintos Orell, G" sort="Pintos Orell, G" uniqKey="Pintos Orell G" first="G." last="Pintos-Morell">G. Pintos-Morell</name><affiliation><mods:affiliation>Haematology, Royal Free Hospital, London NW3 2QG, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U." last="Ramaswami">U. Ramaswami</name><affiliation><mods:affiliation>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Spain</mods:affiliation></affiliation></author><author><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R." last="Parini">R. Parini</name><affiliation><mods:affiliation>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge, U.K.</mods:affiliation></affiliation></author><author><name sortKey="Sunder Lassman, G" sort="Sunder Lassman, G" uniqKey="Sunder Lassman G" first="G." last="Sunder-Plassman">G. Sunder-Plassman</name><affiliation><mods:affiliation>Department of Paediatrics, University of Milan, Monza, Italy</mods:affiliation></affiliation></author><author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. 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Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2007-08"></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">Fabry disease and the skin: data from FOS, the Fabry outcome survey</title><title level="a" type="short">Fabry disease and the skin</title><author xml:id="author-0000"><persName><forename type="first">C.H.</forename><surname>Orteu</surname></persName><affiliation>Departments of Dermatology and</affiliation></author><author xml:id="author-0001"><persName><forename type="first">T.</forename><surname>Jansen</surname></persName><affiliation>Department of Dermatology, Ruhr University, Bochum, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">O.</forename><surname>Lidove</surname></persName><affiliation>Department of Internal Medicine, Bichat Hospital, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">R.</forename><surname>Jaussaud</surname></persName><affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">D.A.</forename><surname>Hughes</surname></persName><affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">G.</forename><surname>Pintos‐Morell</surname></persName><affiliation>Haematology, Royal Free Hospital, London NW3 2QG, U.K.</affiliation></author><author xml:id="author-0006"><persName><forename type="first">U.</forename><surname>Ramaswami</surname></persName><affiliation>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Spain<address><country key="ES"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">R.</forename><surname>Parini</surname></persName><affiliation>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge, U.K.</affiliation></author><author xml:id="author-0008"><persName><forename type="first">G.</forename><surname>Sunder‐Plassman</surname></persName><affiliation>Department of Paediatrics, University of Milan, Monza, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">M.</forename><surname>Beck</surname></persName><affiliation>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria<address><country key="AT"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">A.B.</forename><surname>Mehta</surname></persName><affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0011"><author><orgName>on behalf of the FOS Investigators</orgName></author><affiliation>Departments of Dermatology and</affiliation></author><idno type="istex">4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A</idno><idno type="DOI">10.1111/j.1365-2133.2007.08002.x</idno><idno type="unit">BJD8002</idno><idno type="toTypesetVersion">file:BJD.BJD8002.pdf</idno></analytic><monogr><title level="j" type="main">British Journal of Dermatology</title><title level="j" type="alt">BRITISH JOURNAL OF DERMATOLOGY</title><idno type="pISSN">0007-0963</idno><idno type="eISSN">1365-2133</idno><idno type="book-DOI">10.1111/(ISSN)1365-2133</idno><idno type="book-part-DOI">10.1111/bjd.2007.157.issue-2</idno><idno type="product">BJD</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">157</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="331">331</biblScope><biblScope unit="page" to="337">337</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2007-08"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Summary</head><p><hi rend="bold">Background </hi> Fabry disease (also known as Anderson–Fabry disease) is a rare, X‐linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.</p><p><hi rend="bold">Objectives </hi> To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.</p><p><hi rend="bold">Methods </hi> We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.</p><p><hi rend="bold">Results </hi> We confirm that the commonest disease manifestation is angiokeratoma. Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females). We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system. Although the condition is X linked, there is a surprisingly high prevalence of abnormalities in females.</p><p><hi rend="bold">Conclusions </hi> The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease. The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">angiokeratoma</term><term xml:id="k2">Fabry disease</term><term xml:id="k3">hyperhidrosis</term><term xml:id="k4">hypohidrosis</term><term xml:id="k5">lymphoedema</term><term xml:id="k6">telangiectasia</term></keywords><classCode scheme="tocHeading1">Original articles</classCode><classCode scheme="tocHeading2">Epidemiology and health services research</classCode></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/4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A/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>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1365-2133</doi><issn type="print">0007-0963</issn><issn type="electronic">1365-2133</issn><idGroup><id type="product" value="BJD"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="BRITISH JOURNAL OF DERMATOLOGY">British Journal of Dermatology</title></titleGroup></publicationMeta><publicationMeta level="part" position="08002"><doi origin="wiley">10.1111/bjd.2007.157.issue-2</doi><numberingGroup><numbering type="journalVolume" number="157">157</numbering><numbering type="journalIssue" number="2">2</numbering></numberingGroup><coverDate startDate="2007-08">August 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="18" status="forIssue"><doi origin="wiley">10.1111/j.1365-2133.2007.08002.x</doi><idGroup><id type="unit" value="BJD8002"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="tocHeading1">Original articles</title><title type="tocHeading2">Epidemiology and health services research</title></titleGroup><eventGroup><event type="firstOnline" date="2007-06-15"></event><event type="publishedOnlineFinalForm" date="2007-07-19"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.5 mode:FullText source:FullText result:FullText" date="2010-04-06"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-15"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-15"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="331">331</numbering><numbering type="pageLast" number="337">337</numbering></numberingGroup><correspondenceTo>C.H. Orteu.
E‐mail: <email>cate.orteu@royalfree.nhs.uk</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:BJD.BJD8002.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Accepted for publication 17 January 2007</unparsedEditorialHistory><countGroup><count type="figureTotal" number="5"></count><count type="tableTotal" number="2"></count></countGroup><titleGroup><title type="main">Fabry disease and the skin: data from FOS, the Fabry outcome survey</title><title type="shortAuthors">C.H. Orteu <i>et al.</i></title><title type="short">Fabry disease and the skin</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>C.H.</givenNames><familyName>Orteu</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2"><personName><givenNames>T.</givenNames><familyName>Jansen</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a3"><personName><givenNames>O.</givenNames><familyName>Lidove</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a4"><personName><givenNames>R.</givenNames><familyName>Jaussaud</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a4"><personName><givenNames>D.A.</givenNames><familyName>Hughes</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a5"><personName><givenNames>G.</givenNames><familyName>Pintos‐Morell</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a6"><personName><givenNames>U.</givenNames><familyName>Ramaswami</familyName></personName></creator><creator creatorRole="author" xml:id="cr8" affiliationRef="#a7"><personName><givenNames>R.</givenNames><familyName>Parini</familyName></personName></creator><creator creatorRole="author" xml:id="cr9" affiliationRef="#a8"><personName><givenNames>G.</givenNames><familyName>Sunder‐Plassman</familyName></personName></creator><creator creatorRole="author" xml:id="cr10" affiliationRef="#a9"><personName><givenNames>M.</givenNames><familyName>Beck</familyName></personName></creator><creator creatorRole="author" xml:id="cr11" affiliationRef="#a4"><personName><givenNames>A.B.</givenNames><familyName>Mehta</familyName></personName></creator><creator creatorRole="author" xml:id="cr12" affiliationRef="#a1"><groupName>on behalf of the FOS Investigators</groupName></creator></creators><affiliationGroup><affiliation xml:id="a1"><unparsedAffiliation>Departments of Dermatology and</unparsedAffiliation></affiliation><affiliation xml:id="a5"><unparsedAffiliation>Haematology, Royal Free Hospital, London NW3 2QG, U.K.</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="DE"><unparsedAffiliation>Department of Dermatology, Ruhr University, Bochum, Germany</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine, Bichat Hospital, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="FR"><unparsedAffiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</unparsedAffiliation></affiliation><affiliation xml:id="a6" countryCode="ES"><unparsedAffiliation>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Spain</unparsedAffiliation></affiliation><affiliation xml:id="a7"><unparsedAffiliation>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge, U.K.</unparsedAffiliation></affiliation><affiliation xml:id="a8" countryCode="IT"><unparsedAffiliation>Department of Paediatrics, University of Milan, Monza, Italy</unparsedAffiliation></affiliation><affiliation xml:id="a9" countryCode="AT"><unparsedAffiliation>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria</unparsedAffiliation></affiliation><affiliation xml:id="a10" countryCode="DE"><unparsedAffiliation>University of Mainz, Mainz, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">angiokeratoma</keyword><keyword xml:id="k2">Fabry disease</keyword><keyword xml:id="k3">hyperhidrosis</keyword><keyword xml:id="k4">hypohidrosis</keyword><keyword xml:id="k5">lymphoedema</keyword><keyword xml:id="k6">telangiectasia</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Summary</title><p><b>Background </b> Fabry disease (also known as Anderson–Fabry disease) is a rare, X‐linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.</p><p><b>Objectives </b> To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.</p><p><b>Methods </b> We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.</p><p><b>Results </b> We confirm that the commonest disease manifestation is angiokeratoma. Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females). We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system. Although the condition is X linked, there is a surprisingly high prevalence of abnormalities in females.</p><p><b>Conclusions </b> The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease. The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1" numbered="no"><p>Conflicts of interest
C.H.O. has received honoraria and expenses for speaking engagements from Shire Pharmaceuticals. G.S.P. has received travel grants, speaking honoraria, and clinical research funding from TKT Europe SS/Shire Human Genetic Therapies. M.B. has received unrestricted scientific grants from Shire Human Genetic Therapy. A.B.M. has received honoraria and expenses for speaking engagements and has also receieved research funding from Shire Pharmaceuticals. R.J. has acted as a paid consultant to Shire Human Genetic Therapies Inc. and has received funding to attend and participate in lectures and congresses regarding this specific research and for research carried out in his work. O.L. has received support from TKT Europe AB (Shire Human Genetics, Basingstoke, UK), Actelion Pharmaceuticals Ltd and travel grants from Genzyme Corporation.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Fabry disease and the skin: data from FOS, the Fabry outcome survey</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Fabry disease and the skin</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Fabry disease and the skin: data from FOS, the Fabry outcome survey</title></titleInfo><name type="personal"><namePart type="given">C.H.</namePart><namePart type="family">Orteu</namePart><affiliation>Departments of Dermatology and</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.</namePart><namePart type="family">Jansen</namePart><affiliation>Department of Dermatology, Ruhr University, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">O.</namePart><namePart type="family">Lidove</namePart><affiliation>Department of Internal Medicine, Bichat Hospital, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="family">Jaussaud</namePart><affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.A.</namePart><namePart type="family">Hughes</namePart><affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Pintos‐Morell</namePart><affiliation>Haematology, Royal Free Hospital, London NW3 2QG, U.K.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">U.</namePart><namePart type="family">Ramaswami</namePart><affiliation>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="family">Parini</namePart><affiliation>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge, U.K.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Sunder‐Plassman</namePart><affiliation>Department of Paediatrics, University of Milan, Monza, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Beck</namePart><affiliation>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.B.</namePart><namePart type="family">Mehta</namePart><affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="corporate"><namePart>on behalf of the FOS Investigators</namePart><description>Departments of Dermatology andHaematology, Royal Free Hospital, London NW3 2QG, U.K.Department of Dermatology, Ruhr University, Bochum, GermanyDepartment of Internal Medicine, Bichat Hospital, Paris, FranceDepartment of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, FranceDepartment of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, SpainDepartment of Paediatrics, Addenbrooke’s Hospital, Cambridge, U.K.Department of Paediatrics, University of Milan, Monza, ItalyDivision of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, AustriaUniversity of Mainz, Mainz, Germany</description></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2007-08</dateIssued><edition>Accepted for publication 17 January 2007</edition><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">5</extent><extent unit="tables">2</extent></physicalDescription><abstract>Background Fabry disease (also known as Anderson–Fabry disease) is a rare, X‐linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.</abstract><abstract>Objectives To ascertain the prevalence and nature of cutaneous manifestations in patients with Fabry disease and to relate these to the severity of systemic manifestations of the disease.</abstract><abstract>Methods We have documented the dermatological features of this disease with reference to data from 714 patients (345 males, 369 females) registered on the Fabry Outcome Survey (FOS), a multicentre European database.</abstract><abstract>Results We confirm that the commonest disease manifestation is angiokeratoma. Overall, 78% of males and 50% of females had one or more dermatological abnormality, the commonest being angiokeratoma (66% males, 36% females), hypohidrosis (53% males, 28% females), telangiectasia (23% males, 9% females) and lymphoedema (16% males, 6% females). We demonstrate for the first time that the presence of cutaneous vascular lesions correlates with the severity of the systemic manifestations of the disease (pain, renal failure, cardiac disease, premature cerebrovascular disease) as assessed by a severity scoring system. Although the condition is X linked, there is a surprisingly high prevalence of abnormalities in females.</abstract><abstract>Conclusions The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease. The present study confirms that the presence of dermatological manifestations appears to be a marker of greater severity of systemic disease, which emphasizes the importance of the dermatological assessment of these patients.</abstract><subject lang="en"><genre>keywords</genre><topic>angiokeratoma</topic><topic>Fabry disease</topic><topic>hyperhidrosis</topic><topic>hypohidrosis</topic><topic>lymphoedema</topic><topic>telangiectasia</topic></subject><relatedItem type="host"><titleInfo><title>British Journal of Dermatology</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0007-0963</identifier><identifier type="eISSN">1365-2133</identifier><identifier type="DOI">10.1111/(ISSN)1365-2133</identifier><identifier type="PublisherID">BJD</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>157</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>331</start><end>337</end><total>7</total></extent></part></relatedItem><identifier type="istex">4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A</identifier><identifier type="DOI">10.1111/j.1365-2133.2007.08002.x</identifier><identifier type="ArticleID">BJD8002</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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