tuberous sclerosis 1

What is Tuberous Sclerosis?

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic disorder that affects various parts of the body. It is characterized by the growth of noncancerous (benign) tumors in multiple organs and tissues.

• Causes: The exact cause of TSC is unknown, but it is believed to be caused by mutations in the TSC1 or TSC2 genes.
• Symptoms: Symptoms can range from mild to severe and may include:
  • Skin lesions (ash-leaf spots, confetti-like skin patches)
  • Benign tumors in organs such as the brain, kidneys, heart, lungs, and eyes
  • Developmental delays or intellectual disability
  • Seizures and other neurological problems
  • Respiratory problems due to lung tumors
• Prevalence: TSC is a rare condition, affecting approximately 1 in 6,000 to 1 in 10,000 people worldwide.

According to [1], Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and lungs. This suggests that the condition is characterized by the abnormal growth of cells in various organs and tissues.

References: [1] Dec 6, 2022 — Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and lungs.

Early Signs and Symptoms of Tuberous Sclerosis

Tuberous sclerosis, also known as TSC, is a genetic disorder that affects multiple organs in the body. The signs and symptoms of TSC can vary from person to person, but there are some common indicators that can help with early detection.

• White skin patches: One of the earliest signs of tuberous sclerosis is white skin patches on a baby's body, called hypomelanotic macules [2]. As the child gets older, he or she may develop more patches.
• Changes in the mouth: TSC can cause changes in the mouth, including mouth fibromas or pitting from lack of enamel on teeth. Enamel pitting affects almost everyone with TSC [3].
• Seizures and delayed development: Seizures and delayed development may be the first clues of having TSC [4]. An examination of the skin, fingernails, toenails, teeth, gums, and eyes can also reveal signs of the condition.
• Skin abnormalities: Skin abnormalities such as patches of light-coloured or thickened skin, or red acne-like spots on the face are common in people with TSC [6].
• Kidney problems: The kidneys not working properly is another potential sign of TSC [6].

Common Symptoms

Some other symptoms that may be associated with tuberous sclerosis include:

• Seizures and Epilepsy: Nearly all children with tuberous sclerosis will experience seizures or epilepsy [5].
• Pitted tooth enamel
• Rough growths under or around the fingernails and toenails
• Rubbery noncancerous tumors on or around the tongue
• Lung problems

References

[1] Dec 6, 2022 — Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and ... [2] One of the earliest signs of tuberous sclerosis is white skin patches on a baby's body, called hypomelanotic macules. [3] Changes in your mouth: These include mouth fibromas or pitting from lack of enamel on your teeth. Enamel pitting affects almost everyone with TSC. [4] Jul 19, 2024 — Seizures and delayed development may be the first clues of having TSC. [5] Seizures and / or white patches on the skin are often the first signs of the condition. [6] skin abnormalities – such as patches of light-coloured or thickened skin, or red acne-like spots on the face; the kidneys not working properly; breathing ... [7] Cited by 180 — Symptoms · Pitted tooth enamel. · Rough growths under or around the fingernails and toenails. · Rubbery noncancerous tumors on or around the tongue. · Lung ... [8] The disorder can cause a wide range of potential signs and symptoms and is associated with the formation of benign (non-cancerous) tumors in various organ ...

Diagnostic Tests for Tuberous Sclerosis

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic disorder that can be diagnosed through various diagnostic tests. The following are some common diagnostic tests used to diagnose TSC:

• Imaging scans: Imaging procedures such as CT or MRI scans of the brain, renal ultrasounds, and other forms of imaging may be undertaken to locate any tumors or growths in the body [6].
• Genetic testing: Genetic testing for TSC typically involves analyzing the TSC1 and TSC2 genes. A pathogenic variant identified in these genes is consistent with a diagnosis of tuberous sclerosis complex (TSC) [11].
• Blood tests: Blood tests may be ordered to diagnose tuberous sclerosis, including blood tests and genetic tests to identify related problems [1].
• Electroencephalogram (EEG): An EEG test records electrical activity in the brain and is often used to evaluate seizures [1].
• Physical examination: A physical examination by a healthcare provider may also be part of the diagnostic process for TSC, including eye examinations which may reveal signs of the disorder [9].

It's worth noting that diagnosis of tuberous sclerosis can be established based on clinical diagnostic criteria, such as the presence of two major features or one major feature and two minor features [8].

Treatment Options for Tuberous Sclerosis

Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems, and treatment options are available to manage its symptoms.

• Everolimus: A medicine called everolimus (Afinitor, Zortress) may be used to treat certain types of brain and kidney growths that can't be removed with surgery [1]. It is also indicated for the treatment of adults with TSC-associated renal angiomyolipoma, not requiring immediate surgery [2].
• Rapamycin: Rapamycin, an mTORC1 inhibitor, is now the only pharmacological therapy approved for the treatment of TSC [3]. Rapalogs, compounds that act like rapamycin, have shown potential benefits in treating TSC-associated symptoms [4].
• Sirolimus topical: Sirolimus topical (Hyftor) is a drug used to treat Tuberous Sclerosis Complex. It works by inhibiting the mTOR pathway, which helps to reduce the growth of tumors and other lesions associated with TSC [5].

Other Treatment Options

In addition to these medications, other treatment options are available for managing symptoms of TSC. These include:

• Surgery: Surgery may be necessary to remove growths or tumors that can't be treated with medication.
• Vigabatrin (Sabril): Vigabatrin was approved in 2009 by the FDA to treat infantile spasms in children ages 1 month to 2 years [6].

It's essential to consult a healthcare professional for personalized advice on treating TSC, as each individual's case is unique.

References: [1] Dec 6, 2022 — A medicine called everolimus (Afinitor, Zortress) may be used to treat certain types of brain and kidney growths that can't be removed with surgery. [2] Nov 6, 2024 — Afinitor is indicated for treatment of adults with TSC-associated renal angiomyolipoma, not requiring immediate surgery. [3] by LJ McEneaney · 2019 · Cited by 34 — Rapamycin, an mTORC1 inhibitor, is now the only pharmacological therapy approved for the treatment of TSC. [4] Jun 23, 2020 — Rapalogs are compounds that act like the drug rapamycin and are mTOR inhibitors. While rapalogs have some benefit for treating TSC-associated symptoms. [5] by TH Sasongko · 2016 · Cited by 93 — Previous studies have shown potential benefits of rapamycin or rapalogs for treating people with tuberous sclerosis complex. [6] Apr 13, 2022 — New FDA-Approved Drug for TSC Emerged from Early CDMRP-Funded Clinical Trial.

Differential Diagnoses for Tuberous Sclerosis

Tuberous sclerosis, a rare genetic disorder, can be challenging to diagnose due to its variable presentation and overlap with other conditions. Here are some differential diagnoses that may be considered:

• Complex Partial Seizures: Individuals with tuberous sclerosis may experience seizures, which can be misdiagnosed as complex partial seizures.
• Glioblastoma: Tumors in the brain, such as glioblastoma, can be a feature of tuberous sclerosis and may be mistaken for other types of brain tumors.
• Hydrocephalus: Fluid accumulation in the brain, known as hydrocephalus, can occur in individuals with tuberous sclerosis and may be confused with other conditions affecting the central nervous system.

These differential diagnoses are important to consider when evaluating patients suspected of having tuberous sclerosis. A thorough medical history, physical examination, and diagnostic tests, such as imaging studies and genetic analysis, are essential for accurate diagnosis.

References:

• [1] Nov 6, 2024 — Differential Diagnoses · Complex Partial Seizures · Glioblastoma · Hydrocephalus · Identification of Potential Epilepsy Surgery Candidates.
• [7] Other differential diagnoses include vitiligo, Ito hypomelanosis, acne, skin rash, cardiac myxoma, isolated brain tumors, pulmonary emphysema, and kidney cysts.