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Tuberous Sclerosis

  • Omar PachaEmail author
  • Adelaide Hebert
Chapter

Abstract

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder that classically causes skin changes, intellectual disability, and seizures. This relatively common condition often involves the face with angiofibromas (adenoma sebaceum) that in the earliest stages may be misinterpreted as acne lesions. Variable expressivity complicates the diagnosis and epidemiology of this autosomal dominant disorder. Current treatment focuses on mechanical removal of the angiofibromas. Recently, topical or systemic IL-2 inhibitors like rapamycin have also shown promise as a therapy [1].

Keywords

Intellectual Disability mTOR Inhibitor Tuberous Sclerosis Tuberous Sclerosis Complex mTOR Pathway 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of DermatologyUniversity of Texas Health Science Center, HoustonHoustonUSA

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