Tuberous sclerosis

Tuberous sclerosis (TS) is the most common name for the condition although the expanded name "tuberous sclerosis complex" (TSC) is being used more frequently by doctors to capture the range of medical issues seen in TS. Other names that have been used include:

• Bourneville disease
• Bourneville syndrome
• Bourneville phakomatosis
• Bourneville Pringle Syndrome
• cerebral sclerosis
• phakomatosis TS
• sclerosis tuberosa
• tuberose sclerosis
• TS
• TSC

Tuberous sclerosis is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the number of new people with a disorder or newly-diagnosed. One estimate places the incidence at one in 6,000 newborns in the United States. Overall, approximately 40,000 and 80,000 people in the U.S. have tuberous sclerosis. As many as 2,000,000 million people worldwide may have the disorder. Tuberous sclerosis affects both men and women, and all ethnic and racial groups.

Tuberous sclerosis is often called tuberous sclerosis complex. It is typically abbreviated as TS or TSC.

The incidence of tuberous sclerosis may be as high as 1:5,800 live births. A high mutation rate (1:250,000 per gene per generation) is estimated.

Tuberous sclerosis can includes health issues in many parts of the body including:

Skin findings such as:

• Hypomelanotic macules (white or lighter patches of skin)
• Confetti skin lesions (white freckles)
• Facial angiofibromas (benign facial tumors made of blood vessels and fibrous (connective) tissue)
• Shagreen patches (area of thickened, elevated pebbly skin-- like an orange peel)
• Fibrous cephalic plaques (soft, skin-colored or brown plaques that typically appears on the forehead or scalp)
• Ungual fibromas (painless, slow-growing tumor seen in under the nails)

Brain findings such as:

• Subependymal nodules (small accumulations of cells in the brain)
• Cortical dysplasias (abnormality of brain development that happen before birth where the neurons in an area of the brain failed to migrate in the proper formation)
• Subependymal giant cell astrocytomas (benign brain tumors)
• Seizures
• Intellectual disability / developmental delays
• Psychiatric illness

Kidney findings such as:

• Angiomyolipomas (benign kidney tumors)
• Kidney (renal) cysts
• Renal cell cancer (carcinoma)
• Renal failure

Heart findings such as:

• Rhabdomyomas (benign tumors in the heart or muscles)
• Arrhythmias (heart beating out of rhythm)

Lungs findings such as:

• Lymphangioleiomyomatosis (progressive growth of smooth muscle cells throughout the lungs)
• Multifocal micronodular pneumonocyte hyperplasia (benign tumors of the surface epithelial cells of the alveoli)