Tuberous sclerosis is an autosomal dominantly inherited disease with an incidence of approximately one in 10,000. These tumors can occur in virtually any organ system, particularly brain, kidney, heart, and skin. Pulmonary LAM, which affects women almost exclusively, is a rare disease of pulmonary smooth muscle proliferation. However, LAM is not genetically transmitted. Microscopically, there is cystic distortion of the normal pulmonary architecture by an infiltration of smooth muscle.
Most patients have a slowly declining clinical course.
Lung transplantation is the only effective therapy for patients with end-stage disease. Henske E.P. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Henske E.P. Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis. E.P. Frequent immunoreactivity for estrogen and progesterone receptors in renal angiomyolipomas from women with pulmonary lymphangiomyomatosis. Bjornsson, J., Henske, E.P., Bernstein, J. Renal manifestations.