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Tuberous sclerosis

Bourneville disease 

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.

Causes

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:

  • 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 (facial angiofibromas)
  • Raised patches of skin with an orange-peel texture (shagreen spots), often on the back

Brain symptoms include:

Other symptoms include:

  • Pitted tooth enamel.
  • Rough growths under or around the fingernails and toenails.
  • Rubbery noncancerous tumors on or around the tongue.
  • Lung disease known as LAM (lymphangioleiomyomatosis). This is more common in women and can lead to shortness of breath, coughing blood, and lung collapse.

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:

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

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.

  • Depending on the severity of the mental disability, the child may need special education.
  • Some seizures are controlled with medicine (vigabatrin). Other children may need surgery.
  • Small growths on the face (facial angiofibromas) may be removed by laser treatment. These growths tend to come back, and repeat treatments will be needed.
  • Rhabdomyomas commonly disappear after puberty. Surgery to remove them is usually not needed.
  • Brain tumors can be treated with medicines called mTOR inhibitors (sirolimus, everolimus).
  • Kidney tumors are treated with surgery, or by reducing the blood supply using special x-ray techniques. mTOR inhibitors are being studied as another treatment for kidney tumors.

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:

  • Brain tumors (astrocytoma)
  • Heart tumors (rhabdomyoma)
  • Severe intellectual disability
  • Uncontrollable seizures

When to Contact a Medical Professional

Call your health care provider if:

  • 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.

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.

    • Tuberous sclerosis, angiofibromas  - face

      Tuberous sclerosis, angiofibromas - face - illustration

      These red (erythematous) elevated skin lesions (papules) are tumors made-up of fibrous tissue (angiofibroma) and occur with tuberous sclerosis. Tuberous sclerosis affects both the nervous system and the skin (neurocutaneous) and may also produce other skin lesions including shagreen spots, ash-leaf macula, and periungual fibromas (a type of skin tumor).

      Tuberous sclerosis, angiofibromas - face

      illustration

    • Tuberous sclerosis, hypopigmented macule

      Tuberous sclerosis, hypopigmented macule - illustration

      This area of decreased pigment (hypopigmentation) is referred to as an "ash leaf macule" and is seen with the inherited disorder, tuberous sclerosis. Another finding, "confetti hypopigmentation" is evident as scattered white spots around the ash leaf spot.

      Tuberous sclerosis, hypopigmented macule

      illustration

      • Tuberous sclerosis, angiofibromas  - face

        Tuberous sclerosis, angiofibromas - face - illustration

        These red (erythematous) elevated skin lesions (papules) are tumors made-up of fibrous tissue (angiofibroma) and occur with tuberous sclerosis. Tuberous sclerosis affects both the nervous system and the skin (neurocutaneous) and may also produce other skin lesions including shagreen spots, ash-leaf macula, and periungual fibromas (a type of skin tumor).

        Tuberous sclerosis, angiofibromas - face

        illustration

      • Tuberous sclerosis, hypopigmented macule

        Tuberous sclerosis, hypopigmented macule - illustration

        This area of decreased pigment (hypopigmentation) is referred to as an "ash leaf macule" and is seen with the inherited disorder, tuberous sclerosis. Another finding, "confetti hypopigmentation" is evident as scattered white spots around the ash leaf spot.

        Tuberous sclerosis, hypopigmented macule

        illustration

      Review Date: 8/16/2016

      Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics at The University of Alabama, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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