PHAKOMATOSIS TS

Phakomatosis TS, or Tuberous Sclerosis Complex (TSC), is a rare genetic disorder affecting multiple organ systems, primarily the skin, brain, kidneys, heart, and lungs. This condition is characterized by developing non-cancerous tumors, known as hamartomas, in various body parts.

If you’re diagnosed with tuberous sclerosis complex (TSC), it means your cells don’t follow the normal pattern of stopping division when they should. As a result, tumors can develop in various parts of your body. These tumors aren’t cancerous, but they can still create issues depending on where they grow. Luckily, treatment options are available to help shrink these tumors and improve your comfort.

It’s important to note that TSC affects each person differently. While you might experience it in specific areas of your body, someone else with TSC might have a different experience. These tumors can appear as either thick or light patches on your skin, and if they develop in your lungs, they can lead to breathing difficulties.

Fortunately, there are treatments designed to manage the symptoms of TSC, allowing individuals to lead independent lives.

It’s estimated that between 1 million and 2 million people worldwide live with this condition.

Causes of Phakomatosis TS

Tuberous sclerosis complex (TSC) stems from genetic abnormalities. In most cases, these changes occur during the early stages of cell formation or embryonic development.

TSC, also known as Bourneville disease, is a hereditary condition characterized by abnormal growths on the skin and various organs. These growths, while non-cancerous, can pose significant challenges depending on their location. Initially appearing as small red dots, they later develop into fibromas. If these growths manifest in the lungs, they can impair breathing. Moreover, TSC may lead to tuber-like growths on the brain, which calcify and harden over time, potentially resulting in intellectual disability and seizures. Symptoms typically emerge shortly after birth. Unfortunately, there’s no cure for TSC, but its symptoms can be managed through treatment.

Approximately one-third of individuals inherit TSC from a parent. If one of your parents has the condition, you have a 50% chance of inheriting it.

Prevalence of Phakomatosis TS

Phakomatosis TS is considered rare, with an estimated prevalence of 1 in 6,000 births. However, the actual prevalence may be higher due to cases that go undiagnosed or misdiagnosed.

Symptoms of Phakomatosis TS

Symptoms of Tuberous Sclerosis Complex (TSC) typically appear early in life, often shortly after birth, although they can also emerge later.

Variability in Symptoms: The nature and severity of symptoms can vary depending on factors such as the number and size of tumors and their locations, which can change throughout one’s life.
Kidney Involvement: Tumors in the kidneys can disrupt their normal function, leading to complications like internal bleeding or high blood pressure.
Heart Tumors: Common in youth, heart tumors may decrease in size over time but can still interfere with blood flow or heart rhythm.
Lung Tumors: Lung tumors can cause breathlessness, especially after mild activity, along with coughing or even lung collapse.
Brain Tumors: Associated brain tumors can trigger seizures, ranging from mild to severe over time. Behavioral changes like temper tantrums, anxiety, or sleep disturbances may also occur, along with symptoms such as nausea, headaches, and developmental issues like autism.
Multi-Organ Affection: TSC affects various organs including the skin, lungs, kidneys, heart, and brain, causing non-cancerous tumors that pose significant challenges. Seizures are common, and individuals with TSC may also experience learning disabilities. However, treatments are available to shrink these tumors and enhance quality of life.
Eye and Skin Manifestations: Eye tumors may cause double or blurry vision, while skin symptoms can include patches of differing color and wart-like growths.
Oral Health Concerns: In the mouth, TSC can weaken tooth enamel or lead to overgrowth of the gums.

Risk Factors for Phakomatosis TS

The primary risk factor for Phakomatosis TS is having a family history of the condition. In approximately two-thirds of cases, Phakomatosis TS results from a spontaneous mutation, with no family history.

Diagnosis of Phakomatosis TS

Diagnosing tuberous sclerosis complex (TSC) can be challenging due to its wide range of symptoms.

Your doctor will begin by discussing your symptoms with you, asking about when they started and what specifically brought you to seek medical attention. They may inquire about experiences with seizures, including their frequency, duration, and characteristics. Headaches and family medical history, particularly regarding seizures or TSC, will also be topics of discussion.

To further investigate, your doctor may conduct a physical examination, focusing on your eyes and skin. Additionally, they may request imaging tests, which can include:

CT scan: This series of X-rays generates detailed images of your body to detect tumors and other TSC-related changes.
MRI: Offering a more comprehensive view than CT scans, MRI scans provide detailed images that can reveal blood flow patterns, spinal fluid dynamics, and precise tumor locations. In some cases, a dye may be injected to enhance visualization of specific tissues, aiding in quicker and clearer identification of changes.
Echocardiogram: This ultrasound test assesses the heart’s structure and function, enabling the detection of tumors and other cardiac abnormalities.

Moreover, gene tests conducted on a blood sample can definitively confirm a diagnosis of TSC by identifying genetic mutations associated with the condition.

Treatments

Treatment for Tuberous Sclerosis Complex (TSC) varies based on individual cases, focusing on areas where tumors develop.

Kidney Involvement: If TSC affects your kidneys, doctors may intervene by blocking blood flow to kidney tumors or prescribing medications to shrink them. Surgical removal of tumors might be necessary, with potential future needs for dialysis or kidney transplant.
Brain Tumors: For tumors in the brain, medication can sometimes reduce their size, or surgery may be an option for removal. The FDA-approved drug Afinitor (everolimus) is effective against certain types of brain and kidney tumors linked to TSC.
Seizures Management: Treating seizures in children aids in their brain development and enhances learning.
Lung Issues: Some individuals with TSC-related lung problems benefit from sirolimus, a drug that acts on the immune system.
Skin Care: Dermabrasion, a laser treatment, can smoothen the skin before tumors grow large.

Home Care Tips

Coping with TSC can be challenging, so finding stress-reducing activities and pursuing passions is crucial. For children with TSC, allowing them to enjoy their childhood is important.

Monitoring Health: Be vigilant about changes in your body and promptly inform your doctor. Consistent adherence to treatment plans and regular check-ups are essential.
Seeking Support: Openly discuss your condition with family and friends, seeking their support and assistance. Joining support groups provides a sense of community and invaluable insights from others facing similar challenges.
Mental Health Support: If feeling overwhelmed or depressed, consulting a therapist or counselor recommended by your doctor can offer beneficial support.
Implementing safety measures to prevent injuries during seizures.
Maintaining a healthy lifestyle with regular exercise and a balanced diet.

Expectations

While there’s no cure for TSC, proactive medical management helps prevent complications. With appropriate treatment, most individuals with TSC can anticipate a normal life span, leading active and independent lives.

Accessing Support

Organizations like the National Organization for Rare Diseases and the Tuberous Sclerosis Alliance offer resources to locate TSC clinics and connect with online or local support groups.

Prevention

Since Phakomatosis TS is a genetic disorder, it cannot be prevented. However, genetic counseling may be beneficial for individuals with a family history of the condition to understand their risk and explore reproductive options.

When to See a Doctor:

It is essential to consult a healthcare professional if you or your child experience any symptoms suggestive of Phakomatosis TS, such as seizures, skin abnormalities, or developmental delays. Early diagnosis and intervention can help improve outcomes and quality of life.

Outlook/Prognosis

The prognosis for individuals with Phakomatosis TS varies depending on the severity and extent of organ involvement. With appropriate management and support, many individuals with Phakomatosis TS can lead fulfilling lives and achieve their potential.

Sources:

National Institute of Neurological Disorders and Stroke. (2021). Tuberous Sclerosis Fact Sheet.
Tuberous Sclerosis Alliance. (n.d.). What is TSC?
Tuberous Sclerosis Alliance: “Signs of TSC,” “What Is TSC?” “Lung Involvement,” “Brain Involvement,” “Kidney Involvement,” “Skin Involvement,” “Eye Involvement.”
Tuberous Sclerosis Association: “An Introduction to Tuberous Sclerosis Complex.”
NINDS: “Tuberous Sclerosis Fact Sheet.”
NIH Genetics Home Reference: “Tuberous sclerosis complex.”
Boston Children’s Hospital: “Tuberous Sclerosis (TSC).”
NORD: “Tuberous Sclerosis.”
FDA: “Everolimus for Tuberous Sclerosis Complex (TSC).”
Angiogenesis Foundation: “Angiogenesis inhibitor found effective for treating brain tumors in children with genetic disease; accelerated FDA approval follows study results.”
Northrup, H., & Krueger, D. A. (2013). Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology, 49(4), 243-254.