Acral keratoses: small callous (thickening of the skin) usually located on the extremities

Adenomatous Polyp: benign polyp made of tissue derived from glands (is considered to be precancerous)

Angiokeratomas: purple marks that can develop on the skin

Angiolipomas: benign growth of fat cells found in blood vessels

Amblyopia: decreased vision

Baseline: normal background level used for comparisons

Benign: term describing a growth that is not recurrent and is favorable for recovery, this term is not associated with having a form of cancer

Benign Breast Disease: a variety of conditions characterized by benign growths in breast tissue. See fibrocystic breast disease, ductal hyperplasia, intraducatal papillomatosis, lobular hypertrophy, fibrocystic breast disease, and fibroadenoma

Café au lait spots: small brown birthmarks may be found on the skin

Chromosomes: the structures made of DNA chains that contain genes

Colonoscopy: examination of the colon using a long flexible endoscope (camera)

Corneal Nerves: nerves in the eye that are attached to the cornea

Prominent Corneal Nerves: corneal nerves that are visible by examination

Cranial: relating to the skull

Cutaneous: relating to the skin

Cutaneous Angiolipomas: benign growths consisting of fat cells and blood vessels located just underneath the skin

DNA: the genetic information that cells need to replicate and produce instructions for growth and development

Ductal Hyperplasia: growth of cells lining the ducts in the breast. This is a common change in fibrocystic disease. Changes can range in severity from a benign growth to a pre-malignant condition that is associated with an increased risk for cancer development

Endometrium: cells in glands that line the inside of the uterus

Fibroadenomas: a common benign growth that is usually only 2 to 4 cm in diameter although in some cases they can be up to 10 to 15 cm

Fibrocystic Breast Disease: condition where the breast consists of more than fibrous tissue. This fibrous tissue is a cyst like structure that is not due to tumor development.

Fibromas: benign growth made of fibrous or fully developed connected tissue

Gastrointestinal: relating to the stomach and intestine

Gene: the smallest unit of heredity genes that tell the body how to develop

Hamartoma: benign growth of disorganized cells from normal tissue that is self-limiting (stops itself from growing once the cells have reached maturity)

Hamartomatous Polyp: a benign growth of disorganized cells from normal tissue that is found on a mucosal membrane (ie: inside lining of colon, mouth, nose, etc.). These polyps have a low chance of being malignant

Hemangioma: common benign growth developed from blood vessels

Hereditary: the genetic transmission of a particular quality or trait from parent to child

Hyperextensibility: extension of a part of the body beyond the usual limit

Hypotonia: decreased or low muscle tone

Incidence: the rate at which a certain event occurs or the number of new cases of a specific condition occurring at a certain time

Intraductal papillomatosis: growth usually only 1 to 2 cm in size that can cause discharge from the nipple (may be white or reddish in color)

Karyotype: organized picture of chromosomes

Lhermitte-Duclos Disease: rare condition in the part of the brain known as the cerebellum (found at the back of the head toward the base of the skull). The affected cells are not completely understood, but it's believed to be a hamartomatous growth

Lipoma: benign tumor made of fat tissue

Lobular hypertrophy: growth in the breast that is not caused by an increased number of cells, but instead is associated with cells that have expanded and increased their volume

Lymphaniomyomas: benign growth of made tissue derived from muscle, skin, and lymph vessels

Malignant: growth that tends to become progressively worse and often invades other tissues, is related to cancer

Mammograms: low-dose x-ray that can detect breast cancer up to two years before a woman or a health professional can feel any signs of it

Macrocephaly: larger head size

Mucosal Lesions: variations in the mucosal membranes

Myopathic: a muscle problem

Osseous; made of bone

Palpebral fissures: the opening of the eye

Pectus excavatum: depression of the breastbone (sternum) and rib cartilages

Pathognomonic Criteria: characteristic or indicative of a disease, i.e. one or more symptoms, findings, or pattern of findings specific for a given condition that are usually not found in any other condition

Pedigree: pictorial relation of yourself and your family history, see page 7

Palpation: light touch by a clinician to feel structures under the skin

Papillomatous Lesions: benign growth that is wart-like (but are not warts)

Prophylactic tissue and organ removal (mastectomy): surgical removal of tissue or organ before cancer has formed; technique may be used as a method of risk reduction for cancer

Psuedopapillodema: a swelling of the optic nerve

PTEN: tumor suppressor gene located on chromosome 10 that when changed can result in increased risk of breast cancer, thyroid cancer, and colon cancer

Schwalbe Line: outer edge of a membrane located under the cornea of the eye

Scoliosis: curvature of the spine

Sequencing: a detailed test that can be performed in the laboratory to detect very small changes in a gene

Seizure: change in the electricual impulses in the brain causing children to show rapid blinking or flickering of eyes, rapid jerky movements of limbs, starring spells, and/or head nodding

Sigmoidoscopies: flexible endoscope (camera) used to examine the sigmoid portion of the colon

Syndrome: set of features that occur together

Strabismus: visual disorder when one eye cannot focus with the other, here one eye tends to cross or wander

Subcutaneous: located just beneath the skin

Supernumerary: additional

Trichilemomas: hamartoma of the lower outer root and sheath of the hair

Tumor Suppressor Gene: a gene whose function is to monitor and control cell growth

Ultrasound: technique that uses sound waves to visualize internal structures, often used to see a developing baby in a pregnant woman or to examine internal structures

Urinalysis: examination of a urine sample

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