LymphedemaV1, Main, Curation, bibRecord, 007609

Fabry disease and the skin: data from FOS, the Fabry outcome survey

Identifieur interne : 007609 ( Main/Curation ); précédent : 007608; suivant : 007610

Fabry disease and the skin: data from FOS, the Fabry outcome survey

Auteurs : C. H. Orteu ; T. Jansen [Allemagne] ; O. Lidove [France] ; R. Jaussaud [France] ; D. A. Hughes [France] ; G. Pintos-Morell [Royaume-Uni] ; U. Ramaswami [Espagne] ; R. Parini [Royaume-Uni] ; G. Sunder-Plassman [Italie] ; M. Beck [Autriche] ; A. B. Mehta [France]

Source :

British Journal of Dermatology [ 0007-0963 ] ; 2007-08.

RBID : ISTEX:4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A

Descripteurs français

KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Angiokératome (anatomopathologie), Angiokératome (épidémiologie), Angiokératome (étiologie), Enfant, Europe (épidémiologie), Facteurs de l'âge, Facteurs sexuels, Femelle, Humains, Hypohidrose (épidémiologie), Hypohidrose (étiologie), Indice de gravité médicale, Lymphoedème (épidémiologie), Lymphoedème (étiologie), Maladie de Fabry (), Maladie de Fabry (anatomopathologie), Maladie de Fabry (épidémiologie), Maladies de la peau (épidémiologie), Maladies de la peau (étiologie), Mâle, Prévalence, Tumeurs cutanées (anatomopathologie), Tumeurs cutanées (épidémiologie), Tumeurs cutanées (étiologie), Télangiectasie (anatomopathologie), Télangiectasie (épidémiologie), Télangiectasie (étiologie).
MESH :
- anatomopathologie : Angiokératome, Maladie de Fabry, Tumeurs cutanées, Télangiectasie.
- épidémiologie : Angiokératome, Europe, Hypohidrose, Lymphoedème, Maladie de Fabry, Maladies de la peau, Tumeurs cutanées, Télangiectasie.
- étiologie : Angiokératome, Hypohidrose, Lymphoedème, Maladies de la peau, Tumeurs cutanées, Télangiectasie.
- Adolescent, Adulte, Adulte d'âge moyen, Enfant, Facteurs de l'âge, Facteurs sexuels, Femelle, Humains, Indice de gravité médicale, Maladie de Fabry, Mâle, Prévalence.
Pascal (Inist)
- Angiokératome, Dermatologie, Dyshidrose, Enquête, Evolution, Hyperhidrose, Lipide, Lymphoedème, Peau pathologie, Pronostic, Sphingolipidose héréditaire Fabry, Surveillance, Télangiectasie.

English descriptors

KwdEn :
- Adolescent, Adult, Age Factors, Angiokeratoma, Angiokeratoma (epidemiology), Angiokeratoma (etiology), Angiokeratoma (pathology), Child, Dermatology, Dyshidrosis, Europe (epidemiology), Evolution, Fabry Disease (complications), Fabry Disease (epidemiology), Fabry Disease (pathology), Fabry disease, Female, Humans, Hyperhidrosis, Hypohidrosis (epidemiology), Hypohidrosis (etiology), Lipids, Lymphedema, Lymphedema (epidemiology), Lymphedema (etiology), Male, Middle Aged, Prevalence, Prognosis, Severity of Illness Index, Sex Factors, Skin Diseases (epidemiology), Skin Diseases (etiology), Skin Neoplasms (epidemiology), Skin Neoplasms (etiology), Skin Neoplasms (pathology), Skin disease, Surveillance, Survey, Telangiectasia, Telangiectasis (epidemiology), Telangiectasis (etiology), Telangiectasis (pathology).
MESH :
- geographic , epidemiology : Europe.
- complications : Fabry Disease.
- epidemiology : Angiokeratoma, Fabry Disease, Hypohidrosis, Lymphedema, Skin Diseases, Skin Neoplasms, Telangiectasis.
- etiology : Angiokeratoma, Hypohidrosis, Lymphedema, Skin Diseases, Skin Neoplasms, Telangiectasis.
- pathology : Angiokeratoma, Fabry Disease, Skin Neoplasms, Telangiectasis.
- Adolescent, Adult, Age Factors, Child, Female, Humans, Male, Middle Aged, Prevalence, Severity of Illness Index, Sex Factors.

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:

https://api.istex.fr/document/4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A/fulltext/pdf

DOI: 10.1111/j.1365-2133.2007.08002.x

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C. H. Orteu

<affiliation><wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>

Le document en format XML

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<term>Adult</term>
<term>Age Factors</term>
<term>Angiokeratoma</term>
<term>Angiokeratoma (epidemiology)</term>
<term>Angiokeratoma (etiology)</term>
<term>Angiokeratoma (pathology)</term>
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<term>Adulte</term>
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<term>Angiokératome (épidémiologie)</term>
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<term>Skin Neoplasms</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Angiokeratoma</term>
<term>Fabry Disease</term>
<term>Skin Neoplasms</term>
<term>Telangiectasis</term>
</keywords>
<keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Angiokératome</term>
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<term>Tumeurs cutanées</term>
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<term>Maladies de la peau</term>
<term>Tumeurs cutanées</term>
<term>Télangiectasie</term>
</keywords>
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<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
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<term>Humans</term>
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<term>Middle Aged</term>
<term>Prevalence</term>
<term>Severity of Illness Index</term>
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</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Enfant</term>
<term>Facteurs de l'âge</term>
<term>Facteurs sexuels</term>
<term>Femelle</term>
<term>Humains</term>
<term>Indice de gravité médicale</term>
<term>Maladie de Fabry</term>
<term>Mâle</term>
<term>Prévalence</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Angiokératome</term>
<term>Dermatologie</term>
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<term>Evolution</term>
<term>Hyperhidrose</term>
<term>Lipide</term>
<term>Lymphoedème</term>
<term>Peau pathologie</term>
<term>Pronostic</term>
<term>Sphingolipidose héréditaire Fabry</term>
<term>Surveillance</term>
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<front><div type="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.</div>
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<sZ>2 aut.</sZ>
</inist:fA14>
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</inist:fA14>
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<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</placeName>
</affiliation>
</author>
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<s3>FRA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Grand Est</region>
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</affiliation>
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</affiliation>
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<s3>ITA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Monza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sunder Plassman, G" sort="Sunder Plassman, G" uniqKey="Sunder Plassman G" first="G." last="Sunder-Plassman">G. Sunder-Plassman</name>
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<s3>AUT</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Autriche</country>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name>
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<s2>Mainz</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Rhénanie-Palatinat</region>
<settlement type="city">Mayence</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A. B." last="Mehta">A. B. Mehta</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Haematology, Royal Free Hospital</s1>
<s2>London NW3 2QG</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London NW3 2QG</wicri:noRegion>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Fabry disease and the skin : data from FOS, the Fabry outcome survey</title>
<author><name sortKey="Orteu, C H" sort="Orteu, C H" uniqKey="Orteu C" first="C. H." last="Orteu">C. H. Orteu</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Dermatology, Royal Free Hospital</s1>
<s2>London NW3 2QG</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London NW3 2QG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jansen, T" sort="Jansen, T" uniqKey="Jansen T" first="T." last="Jansen">T. Jansen</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Dermatology, Ruhr University</s1>
<s2>Bochum</s2>
<s3>DEU</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Bochum</wicri:noRegion>
<wicri:noRegion>Ruhr University</wicri:noRegion>
<wicri:noRegion>Bochum</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O." last="Lidove">O. Lidove</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Internal Medicine, Bichat Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jaussaud, R" sort="Jaussaud, R" uniqKey="Jaussaud R" first="R." last="Jaussaud">R. Jaussaud</name>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital</s1>
<s2>Reims</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Grand Est</region>
<region type="old region">Champagne-Ardenne</region>
<settlement type="city">Reims</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hushes, D A" sort="Hushes, D A" uniqKey="Hushes D" first="D. A." last="Hushes">D. A. Hushes</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Haematology, Royal Free Hospital</s1>
<s2>London NW3 2QG</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London NW3 2QG</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pintos Morell, G" sort="Pintos Morell, G" uniqKey="Pintos Morell G" first="G." last="Pintos-Morell">G. Pintos-Morell</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Paediatrics, University Hospital Germans Trias i Pujol</s1>
<s2>Badalona</s2>
<s3>ESP</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Badalona</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U." last="Ramaswami">U. Ramaswami</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Paediatrics, Addenbrooke's Hospital</s1>
<s2>Cambridge</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R." last="Parini">R. Parini</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Paediatrics, University of Milan</s1>
<s2>Monza</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Monza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sunder Plassman, G" sort="Sunder Plassman, G" uniqKey="Sunder Plassman G" first="G." last="Sunder-Plassman">G. Sunder-Plassman</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna</s1>
<s2>Vienna</s2>
<s3>AUT</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Autriche</country>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>University of Mainz</s1>
<s2>Mainz</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Rhénanie-Palatinat</region>
<settlement type="city">Mayence</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A. B." last="Mehta">A. B. Mehta</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Haematology, Royal Free Hospital</s1>
<s2>London NW3 2QG</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London NW3 2QG</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">British journal of dermatology : (1951)</title>
<title level="j" type="abbreviated">Br. j. dermatol. : (1951)</title>
<idno type="ISSN">0007-0963</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">British journal of dermatology : (1951)</title>
<title level="j" type="abbreviated">Br. j. dermatol. : (1951)</title>
<idno type="ISSN">0007-0963</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Angiokeratoma</term>
<term>Dermatology</term>
<term>Dyshidrosis</term>
<term>Evolution</term>
<term>Fabry disease</term>
<term>Hyperhidrosis</term>
<term>Lipids</term>
<term>Lymphedema</term>
<term>Prognosis</term>
<term>Skin disease</term>
<term>Surveillance</term>
<term>Survey</term>
<term>Telangiectasia</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Sphingolipidose héréditaire Fabry</term>
<term>Peau pathologie</term>
<term>Angiokératome</term>
<term>Hyperhidrose</term>
<term>Dyshidrose</term>
<term>Lymphoedème</term>
<term>Télangiectasie</term>
<term>Pronostic</term>
<term>Evolution</term>
<term>Enquête</term>
<term>Surveillance</term>
<term>Dermatologie</term>
<term>Lipide</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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. 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. 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. 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. 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.</div>
</front>
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<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine, Bichat Hospital, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
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<settlement type="city">Reims</settlement>
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<settlement type="city">Reims</settlement>
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<author><name sortKey="Pintos Orell, G" sort="Pintos Orell, G" uniqKey="Pintos Orell G" first="G." last="Pintos-Morell">G. Pintos-Morell</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
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</affiliation>
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<author><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R." last="Parini">R. Parini</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</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 wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Paediatrics, University of Milan, Monza</wicri:regionArea>
<wicri:noRegion>Monza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name>
<affiliation wicri:level="3"><country xml:lang="fr">Autriche</country>
<wicri:regionArea>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna</wicri:regionArea>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A. B." last="Mehta">A. B. Mehta</name>
<affiliation wicri:level="3"><country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims</wicri:regionArea>
<placeName><region type="region">Grand Est</region>
<region type="old region">Champagne-Ardenne</region>
<settlement type="city">Reims</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">British Journal of Dermatology</title>
<title level="j" type="alt">BRITISH JOURNAL OF DERMATOLOGY</title>
<idno type="ISSN">0007-0963</idno>
<idno type="eISSN">1365-2133</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">2007-08</date>
</imprint>
<idno type="ISSN">0007-0963</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0007-0963</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Angiokeratoma (epidemiology)</term>
<term>Angiokeratoma (etiology)</term>
<term>Angiokeratoma (pathology)</term>
<term>Child</term>
<term>Europe (epidemiology)</term>
<term>Fabry Disease (complications)</term>
<term>Fabry Disease (epidemiology)</term>
<term>Fabry Disease (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Hypohidrosis (epidemiology)</term>
<term>Hypohidrosis (etiology)</term>
<term>Lymphedema (epidemiology)</term>
<term>Lymphedema (etiology)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Prevalence</term>
<term>Severity of Illness Index</term>
<term>Sex Factors</term>
<term>Skin Diseases (epidemiology)</term>
<term>Skin Diseases (etiology)</term>
<term>Skin Neoplasms (epidemiology)</term>
<term>Skin Neoplasms (etiology)</term>
<term>Skin Neoplasms (pathology)</term>
<term>Telangiectasis (epidemiology)</term>
<term>Telangiectasis (etiology)</term>
<term>Telangiectasis (pathology)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Angiokératome (anatomopathologie)</term>
<term>Angiokératome (épidémiologie)</term>
<term>Angiokératome (étiologie)</term>
<term>Enfant</term>
<term>Europe (épidémiologie)</term>
<term>Facteurs de l'âge</term>
<term>Facteurs sexuels</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hypohidrose (épidémiologie)</term>
<term>Hypohidrose (étiologie)</term>
<term>Indice de gravité médicale</term>
<term>Lymphoedème (épidémiologie)</term>
<term>Lymphoedème (étiologie)</term>
<term>Maladie de Fabry ()</term>
<term>Maladie de Fabry (anatomopathologie)</term>
<term>Maladie de Fabry (épidémiologie)</term>
<term>Maladies de la peau (épidémiologie)</term>
<term>Maladies de la peau (étiologie)</term>
<term>Mâle</term>
<term>Prévalence</term>
<term>Tumeurs cutanées (anatomopathologie)</term>
<term>Tumeurs cutanées (épidémiologie)</term>
<term>Tumeurs cutanées (étiologie)</term>
<term>Télangiectasie (anatomopathologie)</term>
<term>Télangiectasie (épidémiologie)</term>
<term>Télangiectasie (étiologie)</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Europe</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Angiokératome</term>
<term>Maladie de Fabry</term>
<term>Tumeurs cutanées</term>
<term>Télangiectasie</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Fabry Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Angiokeratoma</term>
<term>Fabry Disease</term>
<term>Hypohidrosis</term>
<term>Lymphedema</term>
<term>Skin Diseases</term>
<term>Skin Neoplasms</term>
<term>Telangiectasis</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Angiokeratoma</term>
<term>Hypohidrosis</term>
<term>Lymphedema</term>
<term>Skin Diseases</term>
<term>Skin Neoplasms</term>
<term>Telangiectasis</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Angiokeratoma</term>
<term>Fabry Disease</term>
<term>Skin Neoplasms</term>
<term>Telangiectasis</term>
</keywords>
<keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Angiokératome</term>
<term>Europe</term>
<term>Hypohidrose</term>
<term>Lymphoedème</term>
<term>Maladie de Fabry</term>
<term>Maladies de la peau</term>
<term>Tumeurs cutanées</term>
<term>Télangiectasie</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Angiokératome</term>
<term>Hypohidrose</term>
<term>Lymphoedème</term>
<term>Maladies de la peau</term>
<term>Tumeurs cutanées</term>
<term>Télangiectasie</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Factors</term>
<term>Child</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Prevalence</term>
<term>Severity of Illness Index</term>
<term>Sex Factors</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Enfant</term>
<term>Facteurs de l'âge</term>
<term>Facteurs sexuels</term>
<term>Femelle</term>
<term>Humains</term>
<term>Indice de gravité médicale</term>
<term>Maladie de Fabry</term>
<term>Mâle</term>
<term>Prévalence</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="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.</div>
</front>
</TEI>
</ISTEX>
</double>
</record>

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Fabry disease and the skin: data from FOS, the Fabry outcome survey

Fabry disease and the skin: data from FOS, the Fabry outcome survey

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