TSC GLOSSARY TERMS

A

Angiofibroma

A benign tumor made up mostly of fibrous tissue.

Angiomyolipomas

Noncancerous tumors that are made of blood vessels, smooth muscle, and tissue that stores fat. These lesions are the most common kidney symptom of TSC.

Anxiety

A state of uneasiness/nervousness.

Attention Deficit Hyperactivity Disorder (ADHD)

A common childhood disorder that causes behavior concerns and symptoms including hyperactivity, difficulty paying attention, and trouble staying focused.

B

Benign

A tumor, growth, or condition that usually advances slowly and does not spread to other parts of the body (not cancerous).

C

Cardiac Rhabdomyomas (also Cardiac Rhabdomyomata)

These non–life-threatening tumors in the heart are made up of grooved muscle fibers, are common in children, typically get smaller with age, and are rarely seen in adults.

Chest X-Ray

X-ray of the lung used to detect lung abnormalities.

Computed Tomography (CT) or Computerized Axial Tomography (CAT) Scan

A procedure that uses x-rays to create pictures of the cross sections of the organs and tissues within your body.

"Confetti" Skin Lesions

Areas of the skin with decreased pigment (measuring 1 mm to 3 mm) that are scattered on the arms and legs.

Cortical Dysplasia

A congenital (present at birth) abnormality in the brain's development in which neurons fail to spread outward toward the cerebral cortex and position correctly. Cortical dysplasia can result in seizure.

E

Electroencephalogram (EEG)

A neurological test that measures and records electrical activity in the brain.

F

Facial Angiofibromas

Characteristic skin lesions of TSC that typically occur on the nose, cheeks, and/or chin, and appear as multiple flesh-colored or red papules.

Foramen of Monro

A small opening between the lateral ventricles of the brain.

Fibrous Cephalic Plaque

A large area of elevated pink skin found on the forehead.

G

Genetics

The branch of biology that focuses on genes and heredity.

H

Hamartomas

Resembling tumors, these benign masses represent abnormal tissue development.

Hydrocephalus

Abnormal increase in the amount of fluid in the brain that can be life threatening in some cases. This can expand the cerebral ventricles, causing enlargement of the skull (especially the forehead) and deterioration of the brain.

Hypomelanotic Macules

Lighter patches of skin that may appear in different shapes on the back of the body, arms, legs, head, or neck, and can be seen by the Wood’s lamp.

I

Intraoral Fibromas

Benign tumors of the mouth, consisting mainly of fibrous tissue.

L

Lymphangioleiomyomatosis (LAM)

A condition occurring primarily in adult women in which normal lung tissue is replaced by numerous cysts and muscle cells.

M

Magnetic Resonance Imaging (MRI)

A noninvasive test that uses a magnetic field and radio waves to produce pictures of internal body tissues.

Mutation

A permanent change in DNA or RNA.

O

Ophthalmoscopy

An examination of the back of the eyeball, including the optic disc, retina, membrane, and blood vessels.

R

Retinal Achromic Patch

This eye lesion does not cause obvious symptoms and is similar to a hypopigmented skin lesion.

Retinal Hamartomas

Raised purple or patch-like lesions involving the retina or optic nerve.

S

Shagreen Patches

Areas of thick, leathery, pebbly skin usually located on the lower back.

Subependymal Giant Cell Astrocytomas (SEGAs)

A noncancerous tumor found in the brain, located in a specific area called the Foramen of Monro, that can lead to hydrocephalus, which can result in increased pressure inside the skull and, potentially, death.

Subependymal Nodules (SENs)

Small, noncancerous tumors found in the brain.

T

Tubers

Lesions in the brain that lack normal laminated architecture.

U

Ultrasound

An imaging method that uses high-frequency sound waves to produce 3-dimensional images of internal body structures.

Ungual Fibroma

A non–life-threatening tumor that occurs around the fingernails and toes.

V

Ventricles

Part of a system of chambers in the brain or heart.

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