Tuberous sclerosis

Lancet. 2008 Aug 23;372(9639):657-68. doi: 10.1016/S0140-6736(08)61279-9.

Abstract

Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively. The hamartin-tuberin complex inhibits the mammalian-target-of-rapamycin pathway, which controls cell growth and proliferation. Variations in the distribution, number, size, and location of lesions cause the clinical syndrome to vary, even between relatives. Most features of tuberous sclerosis become evident only in childhood after 3 years of age, limiting their usefulness for early diagnosis. Identification of patients at risk for severe manifestations is crucial. Increasing understanding of the molecular abnormalities caused by tuberous sclerosis may enable improved management of this disease.

Publication types

  • Review

MeSH terms

  • Electroencephalography
  • Humans
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tuberous Sclerosis* / complications
  • Tuberous Sclerosis* / diagnosis
  • Tuberous Sclerosis* / physiopathology
  • Tumor Suppressor Proteins / genetics*

Substances

  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins