Coincidence of tuberous sclerosis and systemic lupus erythematosus–a case report

CC Cubero, VB Moguel, MÁF Gil, JLÁ Vega - … Clínica (English Edition), 2016 - Elsevier
Tuberous sclerosis, also called Bourneville Pringle disease, is a phakomatosis with potential
dermal, nerve, kidney and lung damage. It is characterized by the development of benign
proliferations in many organs, which result in different clinical manifestations. It is associated
with the mutation of two genes: TSC1 (hamartin) and TSC2 (tuberin), with the change in the
functionality of the complex target of rapamycin (mTOR). MTOR activation signal has been
recently described in systemic lupus erythematosus (SLE) and its inhibition could be …