Tuberous sclerosis

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Tuberous sclerosis, angiofibromas - face Tuberous sclerosis, hypopigmented macule

Overview Symptoms Treatment Prevention

Tuberous sclerosis

• Ash leaf spots of skin, and less often, cafe-au-lait spots
• Shagreen spots of the skin, if present, likely on the back
• Red, highly vascular lumps on the face (adenoma sebaceum)
• Mental retardation
• Seizures
• Rough growths under or around fingernails and toenails
• Pitted dental enamel
• Kidney tumors

• Examination of the eyes may show retinal abnormalities, pale patches, mulberry tumor or phakoma or astrocytoma (tumor).
• There may be some indications of heart abnormalities including abnormal heart rhythm (electorcardiogram) or tumor (rhabdomyoma) on ultrasound.
• An MRI of the head demonstrates tumors or benign "tubers" in the brain.
• A CAT scan of the head may reveal calcium deposits in the brain.
• The mouth may show rubbery growths in tongue or gingiva.
• Ultrasound of kidney may show cysts, fatty benign tumors or serious tumors.
• Ultraviolet light examination of the skin may show ash leaf spots not visible in ordinary light.
• There may be a family history of the condition. Genetic testing for either of two genes that can cause this disease (TSC1 or 2) may be available.

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