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Cowden Syndrome
A Guide for patients and their families

Glossary of Terms

Sarah Burton, UI Health Care
Joy Larsen Haidle, MS, CGC, UI Health Care
Heather Hampel, MS, CGC, Ohio State University
Charis Eng, MD, PhD, Ohio State University

Peer Review Status: Internally reviewed by the authors
First Published:
Last Revised: April 2002

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

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 hyper-plasia, intraductal papillomatosis, lobular hypertrophy, fibrocystic breast disease, and fibroadenoma.

Chromosomes: the structures made of DNA chains that contain genes.

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

Cutaneous: relating to the skin.

DNA: the genetic information 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.

Fibroadenomas: a common benign growth that is usually only two to four 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 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 connective tissue.

Gastrointestinal: relating to the stomach and intestine.

Gene: the smallest unit of heredity genes 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: benign growth of disorganized cells from normal tissue that is found on a mucosal membrane (i.e., 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.

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 one to two 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 ifs 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.

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 detect any signs of it.

Macrocephaly: larger head size.

Mucosal Lesions: variations in the mucosal membranes.

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

Palpebral fissures: the opening of the eye.

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

Pedigree: pictorial relation of a family history, see page 7.

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

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

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

Sigmoidoscopies: flexible endoscope (camera) used to examine the distal (lower 1/3 of colon) portion of the colon.

Syndrome: set of features that occur together.

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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Last modification date: Mon Aug 7 13:10:21 2006
URL: http://www.uihealthcare.com /topics/medicaldepartments/cancercenter/cowden/glossary.html