Tuberous Sclerosis Complex (TSC)
Artist: sc
Artwork Description:
Depigmented skin patches and facial angiofibromas become intricate patterns. The nodules scattered across the skin and internal organs resemble a galaxy. The subject’s calm smile reflects resilience and coexistence with a chronic genetic condition.


Disease Introduction:
Tuberous Sclerosis Complex (TSC)
Type: Genetic / Neurological / Multi-organ disorder
Affected Organs: Brain, skin, heart, kidneys, lungs, and eyes

Symptoms:
Skin signs include hypomelanotic macules, facial angiofibromas, shagreen patches, and periungual fibromas. Neurological manifestations include seizures such as infantile spasms, focal epilepsy, and tonic-clonic seizures, as well as developmental delays, autism spectrum disorder, and learning difficulties. Cardiac rhabdomyomas may appear in infants and can cause arrhythmias or blood flow obstruction. Renal angiomyolipomas and cysts may lead to kidney bleeding or failure. Pulmonary lymphangioleiomyomatosis occurs mainly in women and causes progressive shortness of breath. Retinal hamartomas can impair vision. Of course, severity varies widely among individuals.

Cause / Risk Factors:
Mutations in either the TSC1 or TSC2 gene disrupt regulation of the mTOR signaling pathway, leading to abnormal cell growth and benign tumor formation. About one-third of cases are inherited in an autosomal dominant manner, while two-thirds arise from new spontaneous mutations.

Treatments:
Seizure control is central, often beginning with vigabatrin for infantile spasms or other anticonvulsants for epilepsy.
mTOR inhibitors such as everolimus or sirolimus can shrink subependymal giant cell astrocytomas and renal angiomyolipomas and may improve skin lesions.
Surgery may be required to remove tumors affecting vital organ function or to control drug-resistant epilepsy.
Laser therapy or topical treatments may be used for facial angiofibromas.
Supportive care includes physical, occupational, and behavioral therapy for developmental or autistic features.
Ongoing monitoring includes regular MRI or CT imaging, echocardiograms, kidney ultrasounds, pulmonary function tests, and ophthalmologic exams.
Genetic testing and counseling are recommended for affected families.