TUBEROUS SCLEROSIS - MYRAID PRESENTATIONS

Abstract

INTRODUCTION
Tuberous sclerosis is a multisystem hamartomatous neurocutaneous
disease with one-third of the cases showing familial pattern of
inheritance due to mutations in two tumor suppressor genes, TSC1 and
TSC2. It is also known as tuberous sclerosis complex or Bournville
disease and is characterized by development of multiple tumors of
embryonic ectoderm which are mostly benign in nature or rarely
malignant and involving several organs throughout the body,
especially in the brain, skin, retina, kidney, heart and lung.Accounting
for a prevalence of about 1 in 6000 with approximately 1.5 million
people affected worldwide.The classical triad of manifestation ,which
is also known as the Vogt's triad consist of facial adenoma sebaceum,
epilepsy, and mental retardation.However, this triad is found in less
than half of the patients.TSC1 has a locus on chromosome 9q34 and
encodes the protein hamartin whereas TSC2 is found on chromosome
16q13 and encodes for the protein tuberin.These two proteins react to
form a heterodiamer , which inhibits the mammalian target of
rapamycin(mTOR)-signaling cascade, which is responsible for
regulating cell growth and differentiation.1 The absence of either
hamartin and tuberin leads to loss of inhibition which results in
hamartomatous tumors of tuberous sclerosis.