LymphedemaV1, Main, Merge, bibRecord, 007917

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

Identifieur interne : 007917 ( Main/Merge ); précédent : 007916; suivant : 007918

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

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

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.

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Pascal:07-0370161

Le document en format XML

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<series><title level="j" type="main">British journal of dermatology : (1951)</title>
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<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>
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<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>
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<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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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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Descripteurs français

English descriptors

Abstract

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