Dysregulation of autophagy in melanocytes contributes to hypopigmented macules in tuberous sclerosis complex

The tuberous sclerosis complex (TSC) was initially described about 150 years ago as an autosomal dominant genetic disorder marked by progressive involvement of multiple systems. TSC results from mutations of either the TSC1 or TSC2 gene [1,2]. In patients afflicted, uncontrolled protein synthesis and cell growth due to constitutive mammalian target of rapamycin (mTOR) activation promote benign tumor proliferation at various sites [3,4]; and some non-tumorous symptoms, such as epilepsy and hypopigmented macules, are also observed [5,6].