The tuberous sclerosis complex: a comprehensive review

DM Weiner, DH Ewalt, SE Roach… - Journal of the American …, 1998 - journals.lww.com
Tuberous sclerosis was first reported by von Recklinghausen1 in 1862 and named by
Bourneville2 in 1880. Transmission is autosomal dominant, but roughly 65% to 85% of the
patients arise via spontaneous mutation. 3-6 The incidence of tuberous sclerosis is
estimated between 1: 6,000 and 1: 10,000 individuals. 5, 7 The notion of the “classic triad” of
epilepsy, mental retardation, and facial angiofibromata (adenoma sebaceum) has been
frequently cited in literature. 8, 9 However, few affected individuals develop all of the …