Tuberous sclerosis complex

Anais Brasileiros de Dermatologia

Daniela Araujo Rodrigues²  Ciro Martins Gomes¹  Izelda Maria Carvalho Costa¹ 

[1] ,University of Brazilia University Hospital of Brazilia Medical Residency Program DermatologyBrazilia DF ,Brazil

关键词: Dermatology;    Diagnosis;    Neurology;    Sirolimus;    Tuberous sclerosis;    Dermatologia;    Diagnóstico;    Esclerose tuberosa;    Neurologia;    Sirolimo;   

DOI  :  10.1590/S0365-05962012000200001

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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