Tuberous sclerosis is an autosomal dominant genetic disorder consisting of hamartoma formation in many organs.
The skin lesions include central facial angiofibromas. These angiofibromas generally appear by age ten. They become more extensive at puberty. Periungual fibromas also appear after puberty.
Earlier, a lance-ovate hypopigmented macule can frequently be seen somewhere on the skin surface. This "ash leaflet" patch is detectable under Wood's light.
The shagreen patch is an elevated soft skin colored plaque, usually on the lower trunk. Its presence is highly suggestive of the diagnosis tuberous sclerosis.
Cafe-au-lait macules can also be present.
Mental deficiency is common, as is epilepsy.
Tumors of other organs are also quite common.
Central calcification is noted on the skull film of most adults with the disease. Characteristic changes are also noted on CT and MR scanning.
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