SciELO - Scientific Electronic Library Online

 
vol.87 issue2Behavior assessment of women attending a sexually transmitted disease clinic in Vitória, Brazil author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Anais Brasileiros de Dermatologia

Print version ISSN 0365-0596

Abstract

RODRIGUES, Daniela Araujo; GOMES, Ciro Martins  and  COSTA, Izelda Maria Carvalho. Tuberous sclerosis complex. An. Bras. Dermatol. [online]. 2012, vol.87, n.2, pp. 184-196. ISSN 0365-0596.  http://dx.doi.org/10.1590/S0365-05962012000200001.

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.

Keywords : Dermatology; Diagnosis; Neurology; Sirolimus; Tuberous sclerosis.

        · abstract in Portuguese     · text in English     · pdf in English