Vestige
Artist: Avianna
Artwork Description:
This piece revisits Tuberous Sclerosis Complex through a minimalist portrait of a woman with closed eyes. The scattered spots and floral motifs represent the benign tumors and skin lesions that mark the disease, while the warm background reflects optimism and strength despite its challenges.


Disease Introduction:
Tuberous Sclerosis Complex (TSC)
Type: Genetic multisystem disorder
Affected Organs: Brain, skin, heart, kidneys, lungs, and eyes
Symptoms:
Skin findings include hypomelanotic macules, angiofibromas, and shagreen patches. Neurological symptoms such as epilepsy, cognitive impairment, and autism spectrum features are prominent. Other manifestations include cardiac rhabdomyomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, and retinal hamartomas. In severe cases, subependymal giant cell astrocytomas can obstruct cerebrospinal fluid flow, causing hydrocephalus.

Cause / Risk Factors:
Mutations in TSC1 or TSC2 disrupt the hamartin–tuberin complex that suppresses the mTOR pathway, leading to uncontrolled cell growth and benign tumor formation.

Treatments:
mTOR inhibitors such as everolimus reduce tumor size and seizure frequency.
Antiepileptic drugs or surgery manage epilepsy.
Laser therapy improves facial angiofibromas.
Multisystem surveillance with periodic imaging and organ-specific interventions ensures optimal management.
Genetic counseling is essential for affected families.