Tuberous sclerosis complex
Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.
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Sociedade Brasileira de Dermatologia
2012
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Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000200001 |
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oai:scielo:S0365-059620120002000012012-05-03Tuberous sclerosis complexRodrigues,Daniela AraujoGomes,Ciro MartinsCosta,Izelda Maria Carvalho Dermatology Diagnosis Neurology Sirolimus Tuberous sclerosis Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.info:eu-repo/semantics/openAccessSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia v.87 n.2 20122012-04-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000200001en10.1590/S0365-05962012000200001 |
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Rodrigues,Daniela Araujo Gomes,Ciro Martins Costa,Izelda Maria Carvalho |
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Rodrigues,Daniela Araujo Gomes,Ciro Martins Costa,Izelda Maria Carvalho Tuberous sclerosis complex |
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Rodrigues,Daniela Araujo Gomes,Ciro Martins Costa,Izelda Maria Carvalho |
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Rodrigues,Daniela Araujo |
title |
Tuberous sclerosis complex |
title_short |
Tuberous sclerosis complex |
title_full |
Tuberous sclerosis complex |
title_fullStr |
Tuberous sclerosis complex |
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Tuberous sclerosis complex |
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tuberous sclerosis complex |
description |
Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality. |
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Sociedade Brasileira de Dermatologia |
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2012 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000200001 |
work_keys_str_mv |
AT rodriguesdanielaaraujo tuberoussclerosiscomplex AT gomesciromartins tuberoussclerosiscomplex AT costaizeldamariacarvalho tuberoussclerosiscomplex |
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1756412404467499008 |