Tuberous sclerosis


Definition

Tuberous sclerosis is a genetic disorder that affects the skin, brain/nervous system, kidneys, and heart, and lungs. The condition can also cause tumors to grow in the brain. These tumors have a tuber- or root-shaped appearance.

Alternative Names

Bourneville disease 

Causes

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Tuberous sclerosis is an inherited condition. Changes (mutations) in one of 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, two-thirds of cases are due to new mutations. There most often 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.

Symptoms

Skin symptoms include:

Brain symptoms include:

Other symptoms include:

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.

Exams and Tests

Signs may include:

Tests may include:

DNA testing for 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.

Treatment

There is no known cure for tuberous sclerosis. Because the disease can differ from person to person, treatment is based on the symptoms.

Support Groups

For additional information and resources, contact the Tuberous Sclerosis Alliance at www.tsalliance.org/.

Outlook (Prognosis)

Children with mild tuberous sclerosis most often do well. However, children with severe mental disability or uncontrollable seizures often need lifelong assistance.

Sometimes when a child is born with severe tuberous sclerosis, one of the parents is found to have had a mild case of tuberous sclerosis that was not diagnosed.

The tumors in this disease tend to be noncancerous (benign). However, some tumors (such as kidney or brain tumors) can become cancerous.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Call your health care provider if:

Call a genetic specialist if your child is diagnosed with cardiac rhabdomyoma. Tuberous sclerosis is the leading cause of this tumor.

Prevention

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 with a known gene mutation or history of this condition. However, tuberous sclerosis often appears as a new DNA mutation. These cases are not preventable.

References

National Institute of Neurological Disorders and Stroke. Tuberous sclerosis fact sheet. NIH publication 07-1846. Updated January 21, 2016. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Accessed September 20, 2016.

Northrup H, Koenig MK, Pearson DA, Au KS. Tuberous sclerosis complex. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Updated September 3, 2015. PMID: 20301399 www.ncbi.nlm.nih.gov/pubmed/20301399.

Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.

Tsao H, Luo S. Neurofibromatosis and tuberous sclerosis. In: Bolognia JL, Jorizzo JL, Schaffer JV, et al, eds. Dermatology. 3rd ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 61.

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