Tuberous sclerosis complex (Bourneville disease).
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.
Cassetty
Christopher T
CT
Ronald O. Perelman Department of Dermatology, New York University, USA.
D000328:Adult; D005260:Female; D006801:Humans; D012871:Skin Diseases / Q000175:diagnosis*; D014402:Tuberous Sclerosis / Q000175:diagnosis*