Symptoms:

Skin symptoms include:

• Café-au-lait spots
• Red patches on the face containing many blood vessels (adenoma sebaceum)
• Raised patches of skin with an orange-peel texture (shagreen spots), often on the back
• White areas of skin that look like an ash leaf (ash leaf spots)

Brain symptoms include:

• Developmental delays
• Mental retardation
• Seizures

Other symptoms:

• Heart tumors (rhabdomyoma)
• Kidney tumors
• Pitted dental enamel
• Rough growths under or around the fingernails and toenails
• Rubbery non-cancerous tumors on or around the tongue

The symptoms of tuberous sclerosis vary from person to person. Some people have normal intelligence and no seizures. Others have severe retardation, serious tumors, or difficult-to-control seizures.

Signs and tests:

Signs may include:

• Abnormal heart rhythm (arrhythmia)
• Calcium deposits in the brain
• Non-cancerous "tubers" in the brain
• Rubbery growths on the tongue or gums
• Tumor-like growth (hamartoma) on the retina, pale patches in the eye
• Tumors

Tests may include:

• CT scan of the head
• MRI of the head
• Ultrasound of the kidney
• Ultraviolet light examination of the skin

DNA testing for either of the two genes that can cause this disease (TSC1 or TSC2) is available.

Regular ultrasound checks of the kidneys are an important screening tool, to make sure there is no tumor growth.