Tuberous sclerosis: a survey of 97 cases. II: Physical findings

Abstract

Physical signs, excluding epilepsy, were studied in 97 individuals with tuberous sclerosis. While the red facial rash (adenoma sebaceum) is taken to be one of the classic symptoms, depigmented skin macules were more common. The depigmented patches and raised areas (shagreen patches) appeared in early childhood, and sometimes were present at birth. Other skin problems were common. Although the tuberous sclerotic lesions are known also to cause kidney problems, few individuals had been examined thoroughly to detect these difficulties.