LymphedemaV1, PascalFrancis, Corpus, bibRecord, 000451

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

Identifieur interne : 000451 ( PascalFrancis/Corpus ); précédent : 000450; suivant : 000452

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

Auteurs : C. H. Orteu ; T. Jansen ; O. Lidove ; R. Jaussaud ; D. A. Hushes ; G. Pintos-Morell ; U. Ramaswami ; R. Parini ; G. Sunder-Plassman ; M. Beck ; A. B. Mehta

Source :

British journal of dermatology : (1951) [ 0007-0963 ] ; 2007.

RBID : Pascal:07-0370161

Descripteurs français

Pascal (Inist)
- Sphingolipidose héréditaire Fabry, Peau pathologie, Angiokératome, Hyperhidrose, Dyshidrose, Lymphoedème, Télangiectasie, Pronostic, Evolution, Enquête, Surveillance, Dermatologie, Lipide.

English descriptors

KwdEn :
- Angiokeratoma, Dermatology, Dyshidrosis, Evolution, Fabry disease, Hyperhidrosis, Lipids, Lymphedema, Prognosis, Skin disease, Surveillance, Survey, Telangiectasia.

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. 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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`04`	`1`		`@1 JAUSSAUD (R.)`
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A14	`10`			`@1 University of Mainz @2 Mainz @3 DEU @Z 10 aut.`
A17	`01`	`1`		`@1 FOS Investigators @3 INC`
A20				`@1 331-337`
A21				`@1 2007`
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C01	`01`		`ENG`	@0 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.
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C03	`01`	`X`	`ENG`	`@0 Fabry disease @5 01`
C03	`01`	`X`	`SPA`	`@0 Esfingolipidosis hereditaria Fabry @5 01`
C03	`02`	`X`	`FRE`	`@0 Peau pathologie @5 02`
C03	`02`	`X`	`ENG`	`@0 Skin disease @5 02`
C03	`02`	`X`	`SPA`	`@0 Piel patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Angiokératome @5 03`
C03	`03`	`X`	`ENG`	`@0 Angiokeratoma @5 03`
C03	`03`	`X`	`SPA`	`@0 Angioqueratoma @5 03`
C03	`04`	`X`	`FRE`	`@0 Hyperhidrose @5 04`
C03	`04`	`X`	`ENG`	`@0 Hyperhidrosis @5 04`
C03	`04`	`X`	`SPA`	`@0 Hiperhidrosis @5 04`
C03	`05`	`X`	`FRE`	`@0 Dyshidrose @5 05`
C03	`05`	`X`	`ENG`	`@0 Dyshidrosis @5 05`
C03	`05`	`X`	`SPA`	`@0 Dishidrosis @5 05`
C03	`06`	`X`	`FRE`	`@0 Lymphoedème @5 06`
C03	`06`	`X`	`ENG`	`@0 Lymphedema @5 06`
C03	`06`	`X`	`SPA`	`@0 Linfedema @5 06`
C03	`07`	`X`	`FRE`	`@0 Télangiectasie @5 07`
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C03	`07`	`X`	`SPA`	`@0 Telangiectasia @5 07`
C03	`08`	`X`	`FRE`	`@0 Pronostic @5 09`
C03	`08`	`X`	`ENG`	`@0 Prognosis @5 09`
C03	`08`	`X`	`SPA`	`@0 Pronóstico @5 09`
C03	`09`	`X`	`FRE`	`@0 Evolution @5 10`
C03	`09`	`X`	`ENG`	`@0 Evolution @5 10`
C03	`09`	`X`	`SPA`	`@0 Evolución @5 10`
C03	`10`	`X`	`FRE`	`@0 Enquête @5 11`
C03	`10`	`X`	`ENG`	`@0 Survey @5 11`
C03	`10`	`X`	`SPA`	`@0 Encuesta @5 11`
C03	`11`	`X`	`FRE`	`@0 Surveillance @5 12`
C03	`11`	`X`	`ENG`	`@0 Surveillance @5 12`
C03	`11`	`X`	`SPA`	`@0 Vigilancia @5 12`
C03	`12`	`X`	`FRE`	`@0 Dermatologie @5 13`
C03	`12`	`X`	`ENG`	`@0 Dermatology @5 13`
C03	`12`	`X`	`SPA`	`@0 Dermatología @5 13`
C03	`13`	`X`	`FRE`	`@0 Lipide @5 25`
C03	`13`	`X`	`ENG`	`@0 Lipids @5 25`
C03	`13`	`X`	`SPA`	`@0 Lípido @5 25`
C07	`01`	`X`	`FRE`	`@0 Appareil circulatoire pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cardiovascular disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Aparato circulatorio patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Enzymopathie @5 38`
C07	`02`	`X`	`ENG`	`@0 Enzymopathy @5 38`
C07	`02`	`X`	`SPA`	`@0 Enzimopatía @5 38`
C07	`03`	`X`	`FRE`	`@0 Lipoïdose @5 39`
C07	`03`	`X`	`ENG`	`@0 Lipoidosis @5 39`
C07	`03`	`X`	`SPA`	`@0 Lipoidosis @5 39`
C07	`04`	`X`	`FRE`	`@0 Maladie héréditaire @5 40`
C07	`04`	`X`	`ENG`	`@0 Genetic disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 40`
C07	`05`	`X`	`FRE`	`@0 Métabolisme pathologie @5 41`
C07	`05`	`X`	`ENG`	`@0 Metabolic diseases @5 41`
C07	`05`	`X`	`SPA`	`@0 Metabolismo patología @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Nervous system diseases @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervioso patología @5 42`
C07	`07`	`X`	`FRE`	`@0 Vaisseau sanguin pathologie @5 43`
C07	`07`	`X`	`ENG`	`@0 Vascular disease @5 43`
C07	`07`	`X`	`SPA`	`@0 Vaso sanguíneo patología @5 43`
C07	`08`	`X`	`FRE`	`@0 Angiome @5 44`
C07	`08`	`X`	`ENG`	`@0 Angioma @5 44`
C07	`08`	`X`	`SPA`	`@0 Angioma @5 44`
C07	`09`	`X`	`FRE`	`@0 Dyskératose @5 45`
C07	`09`	`X`	`ENG`	`@0 Dyskeratosis @5 45`
C07	`09`	`X`	`SPA`	`@0 Disqueratosis @5 45`
C07	`10`	`X`	`FRE`	`@0 Hyperkératose @5 46`
C07	`10`	`X`	`ENG`	`@0 Hyperkeratosis @5 46`
C07	`10`	`X`	`SPA`	`@0 Hiperqueratosis @5 46`
C07	`11`	`X`	`FRE`	`@0 Glande sudoripare pathologie @5 47`
C07	`11`	`X`	`ENG`	`@0 Sweat gland disease @5 47`
C07	`11`	`X`	`SPA`	`@0 Glándula sudorípara patología @5 47`
C07	`12`	`X`	`FRE`	`@0 Dermatose bulleuse @5 48`
C07	`12`	`X`	`ENG`	`@0 Bullous dermatosis @5 48`
C07	`12`	`X`	`SPA`	`@0 Dermatosis bulosa @5 48`
C07	`13`	`X`	`FRE`	`@0 Immunopathologie @5 49`
C07	`13`	`X`	`ENG`	`@0 Immunopathology @5 49`
C07	`13`	`X`	`SPA`	`@0 Inmunopatología @5 49`
C07	`14`	`X`	`FRE`	`@0 Lymphatique pathologie @5 50`
C07	`14`	`X`	`ENG`	`@0 Lymphatic vessel disease @5 50`
C07	`14`	`X`	`SPA`	`@0 Linfático patología @5 50`
N21				`@1 239`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0370161 INIST
ET :	Fabry disease and the skin : data from FOS, the Fabry outcome survey
AU :	ORTEU (C. H.); JANSEN (T.); LIDOVE (O.); JAUSSAUD (R.); HUSHES (D. A.); PINTOS-MORELL (G.); RAMASWAMI (U.); PARINI (R.); SUNDER-PLASSMAN (G.); BECK (M.); MEHTA (A. B.)
AF :	Department of Dermatology, Royal Free Hospital/London NW3 2QG/Royaume-Uni (1 aut.); Department of Dermatology, Ruhr University/Bochum/Allemagne (2 aut.); Department of Internal Medicine, Bichat Hospital/Paris/France (3 aut.); Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital/Reims/France (4 aut.); Department of Haematology, Royal Free Hospital/London NW3 2QG/Royaume-Uni (5 aut., 11 aut.); Department of Paediatrics, University Hospital Germans Trias i Pujol/Badalona/Espagne (6 aut.); Department of Paediatrics, Addenbrooke's Hospital/Cambridge/Royaume-Uni (7 aut.); Department of Paediatrics, University of Milan/Monza/Italie (8 aut.); Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna/Vienna/Autriche (9 aut.); University of Mainz/Mainz/Allemagne (10 aut.)
DT :	Publication en série; Niveau analytique
SO :	British journal of dermatology : (1951); ISSN 0007-0963; Coden BJDEAZ; Royaume-Uni; Da. 2007; Vol. 157; No. 2; Pp. 331-337; Bibl. 43 ref.
LA :	Anglais
EA :	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.
CC :	002B08I; 002B22D02; 002B08J
FD :	Sphingolipidose héréditaire Fabry; Peau pathologie; Angiokératome; Hyperhidrose; Dyshidrose; Lymphoedème; Télangiectasie; Pronostic; Evolution; Enquête; Surveillance; Dermatologie; Lipide
FG :	Appareil circulatoire pathologie; Enzymopathie; Lipoïdose; Maladie héréditaire; Métabolisme pathologie; Système nerveux pathologie; Vaisseau sanguin pathologie; Angiome; Dyskératose; Hyperkératose; Glande sudoripare pathologie; Dermatose bulleuse; Immunopathologie; Lymphatique pathologie
ED :	Fabry disease; Skin disease; Angiokeratoma; Hyperhidrosis; Dyshidrosis; Lymphedema; Telangiectasia; Prognosis; Evolution; Survey; Surveillance; Dermatology; Lipids
EG :	Cardiovascular disease; Enzymopathy; Lipoidosis; Genetic disease; Metabolic diseases; Nervous system diseases; Vascular disease; Angioma; Dyskeratosis; Hyperkeratosis; Sweat gland disease; Bullous dermatosis; Immunopathology; Lymphatic vessel disease
SD :	Esfingolipidosis hereditaria Fabry; Piel patología; Angioqueratoma; Hiperhidrosis; Dishidrosis; Linfedema; Telangiectasia; Pronóstico; Evolución; Encuesta; Vigilancia; Dermatología; Lípido
LO :	INIST-1043.354000149951880170
ID :	07-0370161

Links to Exploration step

Pascal:07-0370161

Le document en format XML

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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>
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</author>
<author><name sortKey="Jaussaud, R" sort="Jaussaud, R" uniqKey="Jaussaud R" first="R." last="Jaussaud">R. Jaussaud</name>
<affiliation><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U." last="Ramaswami">U. Ramaswami</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Paediatrics, Addenbrooke's Hospital</s1>
<s2>Cambridge</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R." last="Parini">R. Parini</name>
<affiliation><inist:fA14 i1="08"><s1>Department of Paediatrics, University of Milan</s1>
<s2>Monza</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</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><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>
</affiliation>
</author>
<author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name>
<affiliation><inist:fA14 i1="10"><s1>University of Mainz</s1>
<s2>Mainz</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</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><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>
</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>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0007-0963</s0>
</fA01>
<fA02 i1="01"><s0>BJDEAZ</s0>
</fA02>
<fA03 i2="1"><s0>Br. j. dermatol. : (1951)</s0>
</fA03>
<fA05><s2>157</s2>
</fA05>
<fA06><s2>2</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Fabry disease and the skin : data from FOS, the Fabry outcome survey</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>ORTEU (C. H.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>JANSEN (T.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>LIDOVE (O.)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>JAUSSAUD (R.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>HUSHES (D. A.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>PINTOS-MORELL (G.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>RAMASWAMI (U.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>PARINI (R.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>SUNDER-PLASSMAN (G.)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>BECK (M.)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>MEHTA (A. B.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Dermatology, Royal Free Hospital</s1>
<s2>London NW3 2QG</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Dermatology, Ruhr University</s1>
<s2>Bochum</s2>
<s3>DEU</s3>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Internal Medicine, Bichat Hospital</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="06"><s1>Department of Paediatrics, University Hospital Germans Trias i Pujol</s1>
<s2>Badalona</s2>
<s3>ESP</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Paediatrics, Addenbrooke's Hospital</s1>
<s2>Cambridge</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Paediatrics, University of Milan</s1>
<s2>Monza</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="10"><s1>University of Mainz</s1>
<s2>Mainz</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA17 i1="01" i2="1"><s1>FOS Investigators</s1>
<s3>INC</s3>
</fA17>
<fA20><s1>331-337</s1>
</fA20>
<fA21><s1>2007</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>1043</s2>
<s5>354000149951880170</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2007 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>43 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>07-0370161</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>British journal of dermatology : (1951)</s0>
</fA64>
<fA66 i1="01"><s0>GBR</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B08I</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B22D02</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B08J</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Sphingolipidose héréditaire Fabry</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Fabry disease</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Esfingolipidosis hereditaria Fabry</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Peau pathologie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Skin disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Piel patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Angiokératome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Angiokeratoma</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Angioqueratoma</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Hyperhidrose</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Hyperhidrosis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Hiperhidrosis</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Dyshidrose</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Dyshidrosis</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Dishidrosis</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Télangiectasie</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Telangiectasia</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Telangiectasia</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Pronostic</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Prognosis</s0>
<s5>09</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Pronóstico</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Evolution</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Evolution</s0>
<s5>10</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Evolución</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Enquête</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Survey</s0>
<s5>11</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Encuesta</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Surveillance</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Surveillance</s0>
<s5>12</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Vigilancia</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Dermatologie</s0>
<s5>13</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Dermatology</s0>
<s5>13</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Dermatología</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Lipide</s0>
<s5>25</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Lipids</s0>
<s5>25</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Lípido</s0>
<s5>25</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Lipoïdose</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Lipoidosis</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Lipoidosis</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Vaisseau sanguin pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Vascular disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Vaso sanguíneo patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Angiome</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Angioma</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Angioma</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Dyskératose</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Dyskeratosis</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Disqueratosis</s0>
<s5>45</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Hyperkératose</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Hyperkeratosis</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Hiperqueratosis</s0>
<s5>46</s5>
</fC07>
<fC07 i1="11" i2="X" l="FRE"><s0>Glande sudoripare pathologie</s0>
<s5>47</s5>
</fC07>
<fC07 i1="11" i2="X" l="ENG"><s0>Sweat gland disease</s0>
<s5>47</s5>
</fC07>
<fC07 i1="11" i2="X" l="SPA"><s0>Glándula sudorípara patología</s0>
<s5>47</s5>
</fC07>
<fC07 i1="12" i2="X" l="FRE"><s0>Dermatose bulleuse</s0>
<s5>48</s5>
</fC07>
<fC07 i1="12" i2="X" l="ENG"><s0>Bullous dermatosis</s0>
<s5>48</s5>
</fC07>
<fC07 i1="12" i2="X" l="SPA"><s0>Dermatosis bulosa</s0>
<s5>48</s5>
</fC07>
<fC07 i1="13" i2="X" l="FRE"><s0>Immunopathologie</s0>
<s5>49</s5>
</fC07>
<fC07 i1="13" i2="X" l="ENG"><s0>Immunopathology</s0>
<s5>49</s5>
</fC07>
<fC07 i1="13" i2="X" l="SPA"><s0>Inmunopatología</s0>
<s5>49</s5>
</fC07>
<fC07 i1="14" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>50</s5>
</fC07>
<fC07 i1="14" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>50</s5>
</fC07>
<fC07 i1="14" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>50</s5>
</fC07>
<fN21><s1>239</s1>
</fN21>
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<fN82><s1>OTO</s1>
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<server><NO>PASCAL 07-0370161 INIST</NO>
<ET>Fabry disease and the skin : data from FOS, the Fabry outcome survey</ET>
<AU>ORTEU (C. H.); JANSEN (T.); LIDOVE (O.); JAUSSAUD (R.); HUSHES (D. A.); PINTOS-MORELL (G.); RAMASWAMI (U.); PARINI (R.); SUNDER-PLASSMAN (G.); BECK (M.); MEHTA (A. B.)</AU>
<AF>Department of Dermatology, Royal Free Hospital/London NW3 2QG/Royaume-Uni (1 aut.); Department of Dermatology, Ruhr University/Bochum/Allemagne (2 aut.); Department of Internal Medicine, Bichat Hospital/Paris/France (3 aut.); Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital/Reims/France (4 aut.); Department of Haematology, Royal Free Hospital/London NW3 2QG/Royaume-Uni (5 aut., 11 aut.); Department of Paediatrics, University Hospital Germans Trias i Pujol/Badalona/Espagne (6 aut.); Department of Paediatrics, Addenbrooke's Hospital/Cambridge/Royaume-Uni (7 aut.); Department of Paediatrics, University of Milan/Monza/Italie (8 aut.); Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna/Vienna/Autriche (9 aut.); University of Mainz/Mainz/Allemagne (10 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>British journal of dermatology : (1951); ISSN 0007-0963; Coden BJDEAZ; Royaume-Uni; Da. 2007; Vol. 157; No. 2; Pp. 331-337; Bibl. 43 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B08I; 002B22D02; 002B08J</CC>
<FD>Sphingolipidose héréditaire Fabry; Peau pathologie; Angiokératome; Hyperhidrose; Dyshidrose; Lymphoedème; Télangiectasie; Pronostic; Evolution; Enquête; Surveillance; Dermatologie; Lipide</FD>
<FG>Appareil circulatoire pathologie; Enzymopathie; Lipoïdose; Maladie héréditaire; Métabolisme pathologie; Système nerveux pathologie; Vaisseau sanguin pathologie; Angiome; Dyskératose; Hyperkératose; Glande sudoripare pathologie; Dermatose bulleuse; Immunopathologie; Lymphatique pathologie</FG>
<ED>Fabry disease; Skin disease; Angiokeratoma; Hyperhidrosis; Dyshidrosis; Lymphedema; Telangiectasia; Prognosis; Evolution; Survey; Surveillance; Dermatology; Lipids</ED>
<EG>Cardiovascular disease; Enzymopathy; Lipoidosis; Genetic disease; Metabolic diseases; Nervous system diseases; Vascular disease; Angioma; Dyskeratosis; Hyperkeratosis; Sweat gland disease; Bullous dermatosis; Immunopathology; Lymphatic vessel disease</EG>
<SD>Esfingolipidosis hereditaria Fabry; Piel patología; Angioqueratoma; Hiperhidrosis; Dishidrosis; Linfedema; Telangiectasia; Pronóstico; Evolución; Encuesta; Vigilancia; Dermatología; Lípido</SD>
<LO>INIST-1043.354000149951880170</LO>
<ID>07-0370161</ID>
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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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