Tuberous sclerosis

Tuberous sclerosis, also tuberous sclerosis complex - abbreviated TSC, is genetic thingy associated with increased risk of hamartomas.

Historically described as:

1. Epilepsy.
2. Mental retardation.
3. Adenoma sebaceum (angiofibromas).

Associations

Pathologic:

• Renal angiomyolipoma.
• Cardiac rhabdomyoma.
• Lymphangiomyomatosis.
• Subependymal giant cell astrocytoma (SEGA).

Note:

• The same genes (TSC1, TSC2) are implicated in PEComas.

Genes

• TSC1.
• TSC2.

Incidence

~1 in 10,000 population.

See also

• Adrenal gland.
• Kidney tumours.
• Neurocutaneous syndromes.
• PEComa.