TSC2 and tuberous sclerosis: LAM can occur either as an isolated disorder or in 1-3% of patients with tuberous sclerosis complex (TSC; ORPHA805), an autosomal dominant systemic disorder resulting from mutations in the TSC1 and TSC2 gene and characterized by epilepsy, widespread hamartomatous lesions, renal angiomyolipomas, skin lesions and mental retardation [59].