ABSTRACT
Skin lesions include hypomelanic ‘ash leaf’-shaped macules which fluoresce under UV light (Wood’s lamp) and may be present from birth. The fibrous forehead plaque may also appear early.
Adenoma sebaceum rarely appears before the age of 2-3 years and is a papular acneiform eruption in a butterfly distribution over the face, sparing the upper lip. Periungual fibromata of fingers or toes are rarely seen before puberty, but may be the sole sign of TS. Shagreen patches are raised, roughened areas of skin over the lumbosacral area. Neurological features include learning disability (50%) and seizures, commonly infantile spasms. Psychotic and autistic behaviour is common. Intracranial lesions occur, e.g. subependymal glial nodules, cortical tubers and giant cell astrocytomas (rare but can cause hydrocephalus by obstruction to the third ventricular outflow).
