Tuberous Sclerosis, type 2
Tuberous Sclerosis Complex Type 2
Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. TSC is caused by mutations in either the TSC1 or TSC2 genes. Tuberous Sclerosis Complex Type 2 (TSC2) specifically refers to cases where the mutation occurs in the TSC2 gene.
Genetics
TSC2 is located on chromosome 16p13.3 and encodes for the protein tuberin. Tuberin, along with hamartin (encoded by TSC1), forms a complex that acts as a tumor suppressor by inhibiting the mammalian target of rapamycin (mTOR) pathway. Mutations in TSC2 lead to dysregulation of this pathway, resulting in the formation of hamartomas.
Clinical Features
Individuals with TSC2 mutations may present with a variety of symptoms, including:
- Skin Lesions: Hypomelanotic macules (ash leaf spots), facial angiofibromas, and shagreen patches.
- Neurological Manifestations: Seizures, intellectual disability, and autism spectrum disorders.
- Renal Involvement: Angiomyolipomas and cysts.
- Cardiac Rhabdomyomas: Benign tumors of the heart, often present at birth.
- Pulmonary Involvement: Lymphangioleiomyomatosis (LAM), primarily affecting women.
Diagnosis
Diagnosis of TSC2 is based on clinical criteria and can be confirmed by genetic testing. Imaging studies such as MRI and CT scans are used to identify characteristic lesions in the brain, kidneys, and other organs.
Management
Management of TSC2 involves a multidisciplinary approach, including:
- Neurological Care: Antiepileptic drugs for seizure control.
- Dermatological Treatment: Laser therapy for skin lesions.
- Renal Monitoring: Regular imaging to monitor for angiomyolipomas.
- mTOR Inhibitors: Medications such as everolimus can reduce the size of some tumors.
Prognosis
The prognosis for individuals with TSC2 varies widely depending on the severity of symptoms and the organs involved. Early diagnosis and intervention can improve quality of life and outcomes.
Also see
WikiMD neurology
External links
- Comprehensive information from the National Institute of health.
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Contributors: Prab R. Tumpati, MD
