Tuberous sclerosis (patient information)

Tuberous sclerosis
Overview
What are the symptoms?
What are the causes?
Who is at highest risk?
When to seek urgent medical care?
Diagnosis
Treatment options
Prevention
Where to find medical care for Tuberous sclerosis?
What to expect (Outlook/Prognosis)?
Possible complications
Prevention
Tuberous sclerosis On the Web
Ongoing Trials at Clinical Trials.gov
Images of Tuberous sclerosis
Videos on Tuberous sclerosis
FDA on Tuberous sclerosis
CDC on Tuberous sclerosis
Tuberous sclerosis in the news
Blogs on Tuberous sclerosis
Directions to Hospitals Treating Tuberous sclerosis
Risk calculators and risk factors for Tuberous sclerosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Tuberous sclerosis is a group of two genetic disorders that affect the skin, brain/nervous system, kidneys, and heart, and cause tumors to grow. The diseases are named after a tuber- or root-shaped growth in the brain.

What are the symptoms of Tuberous sclerosis ?

Skin symptoms include:

• Areas of the skin that are white (due to decreased pigment) and have either an ash leaf or confetti appearance
• 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

Brain symptoms include:

• Developmental delays
• Mental retardation
• Seizures

Other symptoms:

• Pitted tooth enamel
• Rough growths under or around the fingernails and toenails
• Rubbery noncancerous 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 intellectual disabilities or difficult-to-control seizures.