Incontinentia Pigmenti Glossary of Medical Terms

Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Anesthesia: Loss of feeling or awareness. A general anesthetic puts the person to sleep . A local anesthetic causes loss of feeling in a part of the body such as a tooth or an area of skin without affecting consciousness. Regional anesthesia numbs a larger part of the body such as a leg or arm, also without affecting consciousness. The term "conduction anesthesia" encompasses both local and regional anesthetic techniques. Many surgical procedures can be done with conduction anesthesia without significant pain . In many situations, such as a C-section , conduction anesthesia is safer and therefore preferable to general anesthesia. However, there are also many types of surgery in which general anesthesia is clearly appropriate.
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Arm: 1. In popular usage, the appendage that extends from the shoulder to the hand. However, the medical definition refers to the upper extremity extending from the shoulder only to the elbow, excluding the forearm, which extends from the elbow to the wrist. The arm contains one bone: the humerus. 2. In a randomized clinical trial, any of the treatment groups. Most randomized trials have two "arms," but some have three "arms," or even more.
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Blindness: Loss of useful sight. Blindness can be temporary or permanent. Damage to any portion of the eye, the optic nerve, or the area of the brain responsible for vision can lead to blindness. There are numerous (actually, innumerable) causes of blindness. The current politically correct terms for blindness include visually handicapped and visually challenged.
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Blood: The familiar red fluid in the body that contains white and red blood cells , platelets , proteins , and other elements. The blood is transported throughout the body by the circulatory system . Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.
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Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Bullae: More than one bulla, a bulla being a blister more than 5 mm (about 3/16 inch) in diameter with thin walls that is full of fluid.
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Chest: The area of the body located between the neck and the abdomen . The chest contains the lungs , the heart and part of the aorta . The walls of the chest are supported by the dorsal vertebrae , the ribs , and the sternum .
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Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Complication: In medicine, an additional problem that arises following a procedure, treatment or illness and is secondary to it. A complication complicates the situation.
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Dilate: To stretch or enlarge. It comes from the Latin verb "dilatare" meaning "to enlarge or expand."
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
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Genetic disease: A disease caused by an abnormality in an individual's genome .
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Hospital: It may seem unnecessary to define a "hospital" since everyone knows the nature of a hospital. A hospital began as a charitable institution for the needy, aged, infirm, or young.
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Hyperpigmentation: Dark spots on the skin. Hyperpigmentation is primarily a cosmetic concern that can be covered with make-up, although in some cases (such as the café au lait spots associated with neurofibromatosis) it can be a sign of an underlying medical problem. If treatment of hyperpigmentation is desired, a dermatologist may be able to use dermabrasion, laser treatments, or bleaching agents to effect change.
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Incontinentia pigmenti: A genetic disease that begins soon after birth with the development of blisters on the trunk and limbs. These blisters then heal, but leave dark hyperpigmented streaks and marble-like whorls on the skin. Other key features include dental and nail abnormalities, bald patches and, in about one-third of cases, mental retardation .
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Intervention: The act of intervening, interfering or interceding with the intent of modifying the outcome. In medicine, an intervention is usually undertaken to help treat or cure a condition. For example, early intervention may help children with autism to speak. "Acupuncture as a therapeutic intervention is widely practiced in the United States," according to the National Institutes of Health. From the Latin intervenire, to come between.
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Laser: A powerful beam of light that can produce intense heat when focused at close range. Lasers are used in medicine in microsurgery, cauterization, for diagnostic purposes, etc. For example, lasers are employed in microsurgery to cut tissue and remove tissue.
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Leg: In popular usage, the leg extends from the top of the thigh down to the foot. However, in medical terminology, the leg refers to the portion of the lower extremity from the knee to the ankle.
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Lens: The transparent structure inside the eye that focuses light rays onto the retina (the nerve layer that lines the back of the eye, senses light and creates impulses that go through the optic nerve to the brain). The lens was named after the lentil bean because it resembled it in shape and size.
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Lethal: Deadly, fatal, capable of causing death, death-dealing. The word "lethal" comes from the Latin "letum" meaning "death or destruction."
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Neonate: A newborn baby.
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Nerve: A bundle of fibers that uses chemical and electrical signals to transmit sensory and motor information from one body part to another. See: Nervous system .
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Neurological: Having to do with the nerves or the nervous system.
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NINDS: Stands for the National Institute of Neurological Disorders and Stroke, one of the National Institutes of Health in the U.S., whose mission is to "support and conduct research and research training on the normal structure and function of the nervous system and on the causes, prevention, diagnosis, and treatment of more than 600 nervous system disorders including stroke , epilepsy , multiple sclerosis , Parkinson's disease, head and spinal cord injury, Alzheimer's disease, and brain tumors."
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Ophthalmologist: An eye doctor. A physician practicing ophthalmology. An ophthalmologist is an M.D.
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Ophthalmology: The art and science of eye medicine.
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Optic: Having to do with vision.
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Optic nerve: The optic nerve connects the eye to the brain. The optic nerve carries the impulses formed by the retina, the nerve layer that lines the back of the eye and senses light and creates impulses. These impulses are dispatched through the optic nerve to the brain, which interprets them as images. Using an ophthalmoscope, the head of the optic nerve can be easily seen. It can be viewed as the only visible part of the brain (or extension of it).
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Organ: A relatively independent part of the body that carries out one or more special functions. The organs of the human body include the eye , ear , heart , lungs , and liver .
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Peripheral: Situated away from the center, as opposed to centrally located.
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Periphery: 1. The outside or surface of a structure; the portion outside the central region.
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Pharmacy: A location where prescription drugs are sold. A pharmacy is, by law, constantly supervised by a licensed pharmacist.
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Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair.
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Pigmentation: The coloring of the skin, hair, mucous membranes, and retina of the eye.
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Prognosis: 1. The expected course of a disease .
2. The patient's chance of recovery.
The prognosis predicts the outcome of a disease and therefore the future for the patient . His prognosis is grim, for example, while hers is good.
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Rash : Breaking out (eruption) of the skin. Medically, a rash is referred to as an exanthem.
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Retina: The retina is the nerve layer that lines the back of the eye, senses light, and creates impulses that travel through the optic nerve to the brain. There is a small area, called the macula, in the retina that contains special light-sensitive cells. The macula allows us to see fine details clearly.
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Retinal: Pertaining to the retina , the extraordinary layer of neurons (nerve cells) that line the back of the eye, which can sense light and create impulses capable of voyaging through the optic nerve to the brain where the impulses are recognized as an image.
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Retinal detachment : A separation of the retina from its connection at the back of the eye. The separation usually results from a tear (that is, a rent or rip, not a tear drop) in the retina. The tear often occurs when the vitreous gel pulls loose or separates from its attachment to the retina, usually in the outside edges of the eye. The vitreous is a clear gel that fills most of the inside of the eye between the retina and the lens. If the retina is weak when the vitreous gel pulls loose, the retina will tear. This rip is sometimes accompanied by bleeding, or hemorrhage, if a blood vessel is also torn.
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Retinal disease: In medicine, called retinopathy. See: Retinopathy .
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Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.

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Spinal cord: The major column of nerve tissue that is connected to the brain and lies within the vertebral canal and from which the spinal nerves emerge. Thirty-one pairs of spinal nerves originate in the spinal cord: 8 cervical , 12 thoracic , 5 lumbar, 5 sacral, and 1 coccygeal. The spinal cord and the brain constitute the central nervous system ( CNS ). The spinal cord consists of nerve fibers that transmit impulses to and from the brain. Like the brain, the spinal cord is covered by three connective-tissue envelopes called the meninges . The space between the outer and middle envelopes is filled with cerebrospinal fluid ( CSF ), a clear colorless fluid that cushions the spinal cord against jarring shock. Also known simply as the cord.
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Stroke : The sudden death of some brain cells due to a lack of oxygen when the blood flow to the brain is impaired by blockage or rupture of an artery to the brain. A stroke is also called a cerebrovascular accident or, for short, a CVA.
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Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Therapy: The treatment of disease .
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Vesicles: In dermatology, vesicles are small blisters, most often on the skin. Vesicles also can crop up on the mucous membranes, such as the buccal mucosa (the lining of the mouth).
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X chromosome: A sex chromosome found in both females and males. Normal females usually have two X chromosomes. Normal males usually have one X along with a Y chromosome . The complete chromosome complement consisting of 46 chromosomes is conventionally written as 46,XX for females and 46,XY for males.
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X-linked: On the X chromosome. "Linked" in genetics does not mean merely associated. An X-linked gene travels with the X chromosome and therefore is part of the X chromosome.
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