Tuberous sclerosis: a genetic study

Tuberous sclerosis is an autosomal dominant condition, but with a varied clinical picture. In the severe and fully developed form, the patient is a mentally defective epileptic with adenoma sebaceum and retinal phakomata. He may also have other typical skin lesions such as shagreen patches, white naevi, and subungual fibromata. However, milder forms occur, without mental retardation or epilepsy. There have been several clinical studies in the past, many of which relate to selected populations and therefore emphasize the severer aspects of the disease. Critchley and Earl (1932), Dawson (1954)