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.
Causes, incidence, and risk factors
Tuberous sclerosis is inherited. Changes (mutations) in two genes, TSC1 and TSC2, are responsible for most cases of the condition.
Only one parent needs to pass on the mutation for the child to get the disease. However, most cases are due to new mutations, so 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
Either side of your family has a history of tuberous sclerosis
You notice symptoms of tuberous sclerosis in your child
Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.
Genetic counseling is recommended for couples who have a family history of tuberous sclerosis and who want to have children.
Prenatal diagnosis is available for families who are known to have a history of this condition. However, tuberous sclerosis often appears as a new DNA mutation, and these cases are not preventable.
Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 589.
Northrup H, Koenig MK, Au KS. Tuberous sclerosis complex. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews.
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, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.