Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, and heart. The condition can also cause tumors to grow in the brain. These tumors have a tuber- or root-shaped appearance.
Tuberous sclerosis is an inherited condition. Changes (mutations) in two genes, TSC1 and TSC2, are responsible for most cases.
Only one parent needs to pass on the mutation for the child to get the disease. However, most cases are due to new mutations. There usually is no family history of tuberous sclerosis.
This condition is one of a group of diseases called neurocutaneous syndromes. Both the skin and central nervous system (brain and spinal cord) are involved.
There are no known risk factors, other than having a parent with tuberous sclerosis. In that case, each child has a 50% chance of inheriting the disease.
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
Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, et al., eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 589.
Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.