Fabry disease and the skin: data from FOS, the Fabry outcome survey.
Identifieur interne : 002766 ( Ncbi/Merge ); précédent : 002765; suivant : 002767Fabry disease and the skin: data from FOS, the Fabry outcome survey.
Auteurs : C H Orteu [Royaume-Uni] ; T. Jansen ; O. Lidove ; R. Jaussaud ; D A Hughes ; G. Pintos-Morell ; U. Ramaswami ; R. Parini ; G. Sunder-Plassman ; M. Beck ; A B MehtaSource :
- The British journal of dermatology [ 0007-0963 ] ; 2007.
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.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Angiokeratoma (epidemiology), Angiokeratoma (etiology), Angiokeratoma (pathology), Child, Europe (epidemiology), Fabry Disease (complications), Fabry Disease (epidemiology), Fabry Disease (pathology), Female, Humans, Hypohidrosis (epidemiology), Hypohidrosis (etiology), Lymphedema (epidemiology), Lymphedema (etiology), Male, Middle Aged, Prevalence, Severity of Illness Index, Sex Factors, Skin Diseases (epidemiology), Skin Diseases (etiology), Skin Neoplasms (epidemiology), Skin Neoplasms (etiology), Skin Neoplasms (pathology), 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
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.
DOI: 10.1111/j.1365-2133.2007.08002.x
PubMed: 17573884
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 003615
- to stream PubMed, to step Curation: 003615
- to stream PubMed, to step Checkpoint: 003615
Links to Exploration step
pubmed:17573884Le document en format XML
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<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>
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<term>Télangiectasie (épidémiologie)</term>
<term>Télangiectasie (étiologie)</term>
</keywords>
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</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>
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<term>Adult</term>
<term>Age Factors</term>
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<term>Severity of Illness Index</term>
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<term>Facteurs de l'âge</term>
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<front><div type="abstract" xml:lang="en">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>
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<DateCreated><Year>2007</Year>
<Month>07</Month>
<Day>25</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>11</Month>
<Day>13</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>12</Month>
<Day>05</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">0007-0963</ISSN>
<JournalIssue CitedMedium="Print"><Volume>157</Volume>
<Issue>2</Issue>
<PubDate><Year>2007</Year>
<Month>Aug</Month>
</PubDate>
</JournalIssue>
<Title>The British journal of dermatology</Title>
<ISOAbbreviation>Br. J. Dermatol.</ISOAbbreviation>
</Journal>
<ArticleTitle>Fabry disease and the skin: data from FOS, the Fabry outcome survey.</ArticleTitle>
<Pagination><MedlinePgn>331-7</MedlinePgn>
</Pagination>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="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.</AbstractText>
<AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">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.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="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.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="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.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="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.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Orteu</LastName>
<ForeName>C H</ForeName>
<Initials>CH</Initials>
<AffiliationInfo><Affiliation>Department of Dermatology, Royal Free Hospital, London NW3 2QG, UK. cate.orteu@royalfree.nhs.uk</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Jansen</LastName>
<ForeName>T</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lidove</LastName>
<ForeName>O</ForeName>
<Initials>O</Initials>
</Author>
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<ForeName>R</ForeName>
<Initials>R</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hughes</LastName>
<ForeName>D A</ForeName>
<Initials>DA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Pintos-Morell</LastName>
<ForeName>G</ForeName>
<Initials>G</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ramaswami</LastName>
<ForeName>U</ForeName>
<Initials>U</Initials>
</Author>
<Author ValidYN="Y"><LastName>Parini</LastName>
<ForeName>R</ForeName>
<Initials>R</Initials>
</Author>
<Author ValidYN="Y"><LastName>Sunder-Plassman</LastName>
<ForeName>G</ForeName>
<Initials>G</Initials>
</Author>
<Author ValidYN="Y"><LastName>Beck</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Mehta</LastName>
<ForeName>A B</ForeName>
<Initials>AB</Initials>
</Author>
<Author ValidYN="Y"><CollectiveName>FOS Investigators</CollectiveName>
</Author>
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<Language>eng</Language>
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<Month>06</Month>
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<MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000367" MajorTopicYN="N">Age Factors</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000794" MajorTopicYN="N">Angiokeratoma</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
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<MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
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<MeshHeading><DescriptorName UI="D005060" MajorTopicYN="N" Type="Geographic">Europe</DescriptorName>
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<MeshHeading><DescriptorName UI="D000795" MajorTopicYN="N">Fabry Disease</DescriptorName>
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<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007007" MajorTopicYN="N">Hypohidrosis</DescriptorName>
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<QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015995" MajorTopicYN="N">Prevalence</DescriptorName>
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<MeshHeading><DescriptorName UI="D012720" MajorTopicYN="N">Severity of Illness Index</DescriptorName>
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<MeshHeading><DescriptorName UI="D012737" MajorTopicYN="N">Sex Factors</DescriptorName>
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<MeshHeading><DescriptorName UI="D012871" MajorTopicYN="N">Skin Diseases</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012878" MajorTopicYN="N">Skin Neoplasms</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D013684" MajorTopicYN="N">Telangiectasis</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName>
<QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName>
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<ArticleId IdType="doi">10.1111/j.1365-2133.2007.08002.x</ArticleId>
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<affiliations><list><country><li>Royaume-Uni</li>
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<tree><noCountry><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M" last="Beck">M. Beck</name>
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<name sortKey="Jansen, T" sort="Jansen, T" uniqKey="Jansen T" first="T" last="Jansen">T. Jansen</name>
<name sortKey="Jaussaud, R" sort="Jaussaud, R" uniqKey="Jaussaud R" first="R" last="Jaussaud">R. Jaussaud</name>
<name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O" last="Lidove">O. Lidove</name>
<name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A B" last="Mehta">A B Mehta</name>
<name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R" last="Parini">R. Parini</name>
<name sortKey="Pintos Morell, G" sort="Pintos Morell, G" uniqKey="Pintos Morell G" first="G" last="Pintos-Morell">G. Pintos-Morell</name>
<name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U" last="Ramaswami">U. Ramaswami</name>
<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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