Tuberous sclerosis – Symptoms and causes

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tuberous sclerosis life expectancy

The tuberous sclerosis is also known as tuberous sclerosis complex. It is an uncommon genetic disorder which is causing noncancerous (benign) tumors, which are unexpected growths of normal tissue, and they develop in many parts of the body. The signs and symptoms can vary widely, which depends on where the growths develop and how severely a person is affected. The tuberous sclerosis is often detected during the infancy or childhood [1]. Some people with tuberous sclerosis have mild signs and symptoms, so this condition is not diagnosed until adulthood, or it goes undiagnosed.

Other people can experience serious disabilities. There is no cure for the tuberous sclerosis, and the course of severity of this disorder cannot be predicted, but there are treatments which are available to manage the symptoms.

tuberous sclerosis mnemonic

Tuberous sclerosis symptoms

The symptoms of tuberous sclerosis are caused by the benign tumors (noncancerous growths), in parts of the body. Most commonly, they happen in the skin, lungs, heart, kidneys, eyes and brain, but any part of the body can be affected. The symptoms of itcan range from mild to severe, which depends on the size or location of the overgrowth. [1] The signs and symptoms are unique for every person who has tuberous sclerosis, but they include:

  • Behavioral problems: The most common behavioral problems can include hyperactivity, aggression, self – injury or issues with social and emotional adjustment. [2]
  • Seizures: The growths in the brain can be associated with seizures and this can be the first symptom of it. It is noticed that in small children, a common type of seizure which is known as infantile spasm, shows up as repetitive spasms of the legs and head. [3]
  • Kidney problems: It is noticed that most people with tuberous sclerosis develop noncancerous growths on their kidneys and they may develop more growths as they are getting older. [4]
  • Cognitive disabilities: It can be associated with developmental delays and sometimes learning disabilities or intellectual disability. The mental health disorders, such as ADHD (attention – deficit hyperactivity disorder) or autism disorder, can happen. [5]
  • Skin abnormalities: It is noticed that most people with it have patches of light – colored skin, or they can develop small, harmless areas o thickened and smooth skin, or reddish bumps under or around the nails. Also, it is common to have facial growths which begin in the childhood and resemble acne.
  • Eye abnormalities: It is noticed that growths can appear as white patches on the light – sensitive tissue at the back of the eye (called retina). These are noncancerous growths which do not always interfere with vision. [6]

Tuberous sclerosis causes

The signs and symptoms of it may not be noticed by birth. The first signs and symptoms may become evident during the childhood or even years later in the adulthood. If you are concerned about your child’s development or you notice any of the signs or symptoms of it which are mentioned above, then you should talk with your child’s doctor.

Risk factors

The tuberous sclerosis can be a result of either:

  • Inheritance: It is noticed that about one – third of people who suffer from tuberous sclerosis inherit an altered TSC1 or TSC2 gene from a parent who also have this disorder. [7]
  • A random cell division error: It is noticed that about two – thirds of people who suffer from tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene (these are genes that are associated with the tuberous sclerosis) and they do not have a family history of tuberous sclerosis. [7]

Complications

There are some cases when it can cause severe or life – threatening complications in these people, which depends on the size and location of this noncancerous growth. Below are mentioned some of the most common complications [4,5,6] that can be caused by tuberous sclerosis:

  • Vision damage
  • Excess fluid in and around the brain
  • Increased risk of cancerous (malignant) tumors
  • Heart complications
  • Lung failure
  • Kidney damage

References:

[1] Davis PE, Filip-Dhima R, Sideridis G, et al. Presentation and diagnosis of tuberous sclerosis complex in infants. Pediatrics. 2017;140(6).

[2] Julich K, Sahin M. Mechanism-based treatment in tuberous sclerosis complex. Pediatric Neurology. 2014;50(4):290–6.

[3] Wei CC, Sheu JN, Liu JT, et al. Trend of seizure remission in patients with tuberous sclerosis complex: A retrospective medical review. Journal of the Chinese Medical Association. 2018;81(8):724-8.

[4] Rouviere O, Nivet H, Grenier N, et al. Kidney damage due to tuberous sclerosis complex: Management recommendations. Diagnostic and Interventional Imaging. 2013;94(3):225-37.

[5] Overwater IE, Verhaar BJH, Lingsma HF, et al. Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex. Journal of Neurology. 2017;264(1):161–7.

[6] Rowley SA, O’Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. British Journal of Ophthalmology. 2001;85:420-3.

[7] Genetics Home Reference. Tuberous sclerosis complex. Retrieved from ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#

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