Disease Information for Tuberous Sclerosis: Definition

  • An autosomal dominant disorder which is generally classified as a phacomatosis; Pathologically, the condition is characterized by glial cell tumors which arise in the cerebral hemispheres and retina; There is an increased incidence of benign rhabdomyomas of the heart and angiomyolipomas of kidney, liver, lungs, thyroid, and testes; Clinical manifestations include MENTAL RETARDATION; adenoma sebaceum of the face (actually angiofibromas); EPILEPSY; SPASMS; INFANTILE; Shagreen patches on the trunk; and subungual fibromas

    -- From Adams et al, Principles of Neurology, 6th ed, p1011 --

    A triad of epilepsy, mental retardation, and angiofibromas of numerous organs with intracranial hamartomatous lesions involving subependymal nodules and cerebral cortical tubers (hence the name "tuberous sclerosis")

    -- Jablonski/NIH archives 2007 --