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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Main Authors: Rodrigues,Daniela Araujo, Gomes,Ciro Martins, Costa,Izelda Maria Carvalho
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Dermatologia 2012
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962012000200001
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spelling 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
institution SCIELO
collection OJS
country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Rodrigues,Daniela Araujo
Gomes,Ciro Martins
Costa,Izelda Maria Carvalho
spellingShingle Rodrigues,Daniela Araujo
Gomes,Ciro Martins
Costa,Izelda Maria Carvalho
Tuberous sclerosis complex
author_facet Rodrigues,Daniela Araujo
Gomes,Ciro Martins
Costa,Izelda Maria Carvalho
author_sort Rodrigues,Daniela Araujo
title Tuberous sclerosis complex
title_short Tuberous sclerosis complex
title_full Tuberous sclerosis complex
title_fullStr Tuberous sclerosis complex
title_full_unstemmed Tuberous sclerosis complex
title_sort 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.
publisher Sociedade Brasileira de Dermatologia
publishDate 2012
url 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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