Walsh & Hoyt: Tuberous Sclerosis

Recognition of tuberous sclerosis as a specific disease involving multiple organs developed slowly. In 1835, Rayer featured the distinctive facial papules in an atlas of dermatology. These were subsequently described in detail by Addison and Gull. In 1863, von Recklinghausen first described the microscopic appearance of the classic visceral lesions. In 1880, Bourneville identified the entire syndrome in a young girl with mental retardation, epilepsy, and a vesiculopapular eruption on the nose, cheeks, and forehead. After a subsequent autopsy, he stressed that the tumors found in the brain and kidneys were the major features of the disease. Subsequently, the ocular, cardiac, renal, and pulmonary findings gained clinical significance. Because of these diverse manifestations, this disorder is often called the tuberous sclerosis complex (TSC). The major focus of research in this disorder is concerned with the genetic complexities involved in cell proliferation and differentiation.