Tuberous sclerosis, also known as tuberous sclerosis complex (TSC) or Bourneville disease, is a rare genetic disorder characterized by the formation of benign tumors in various organs. The condition follows an autosomal dominant inheritance pattern, meaning there is a 50% chance of passing it on to offspring if one parent carries the affected gene. However, in most cases, TSC occurs sporadically, without a clear genetic inheritance link.
Two distinct genes, TSC1 and TSC2, are involved in the development of tuberous sclerosis. A pathogenic variant in these genes leads to abnormal cell development and uncontrolled cell growth throughout the body.
Clinical Manifestations:
TSC is suspected in children presenting with skin changes, seizures, heart involvement, or brain abnormalities detected via MRI. Some of the most common signs include:
- Skin Involvement: Hypopigmented spots (lighter-colored patches), areas of thickened, smooth, or irregular skin. Forehead plaques, facial angiofibromas resembling acne, and fibromas around or under the nails may also be present.
- Brain: Cortical dysplasias, which can trigger seizures, often the first symptom in young children. Epileptic spasms are among the most frequent seizure types in TSC.
- Cardiovascular: Cardiac rhabdomyomas, benign tumors commonly seen in infants, can be detected prenatally. These may shrink over time or persist.
- Renal: Cysts and angiomyolipomas develop in 70–80% of patients between ages 15 and 30.
- Ocular: White retinal nodules that usually do not impair vision. However, annual ophthalmologic exams are recommended to monitor changes.
- Lung leasions: More common in adults, especially women, leading to coughing and breathing difficulties, particularly during exertion.
Treatment and Management
Currently, there is no curative treatment for TSC, but symptomatic and supportive management is available:
- Medical treatment focuses on seizure control and managing associated comorbidities. Everolimus therapy is available for treating brain or kidney tumors in selected cases.
- Surgical Intervention: In cases where antiepileptic medications fail, surgery may be performed on the affected brain areas causing seizures. Nodules in various tissues can also be surgically removed if necessary.
- Multidisciplinary Care: Patients benefit from a specialized team, including neurologists, dermatologists, nephrologists, and geneticists. Psychological support is essential for addressing potential behavioral and developmental delays.
Our center runs the National Program for Tuberous Sclerosis.
- National Institute of Neurological Disorders and Stroke – Tuberous Sclerosis Complex – Read More
- TSC Romania – Visit Website
- Mayo Clinic – Tuberous Sclerosis Symptoms and Causes – Read More