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Tuberous sclerosis complex (Bourneville disease).
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Abstract
A 26-year-old woman with tuberous sclerosis complex had numerous cutaneous manifestations and systemic manifestations that included subependymal nodules, pulmonary lymphangioleiomyomatosis, renal cysts, and bilateral renal angiomyolipomas. Tuberous sclerosis is a hamartomatous disease with defects in either hamartin (TSC1) or tuberin (TSC2) that can be of autosomal dominant inheritance or spontaneous mutation.