Rothmund-Thomson Syndrome Glossary of Terms

Skin Problems Slideshow

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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ALPS: Autoimmune lymphoproliferative syndrome.

Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
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Atrophy: Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass.
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Baldness: Medically known as alopecia. There are many types of baldness, each with a different cause. Baldness may be localized to the front and top of the head, as in the very common type of male-pattern baldness; baldness may be patchy, a condition called alopecia areata; or it may involve the entire head, as in alopecia capitis totalis. The word "alopecia" comes from the Greek "alopex" for "fox." Foxes are less furry when afflicted with a skin disease called the "mange" which causes them to lose their hair. When a fancier word for "baldness" was sought, the mangy fox supplied it, "alopecia" or, if you wish, "fox-mange", not a very positive image to associate with baldness!

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.

Bone: Bone is the substance that forms the skeleton of the body. It is composed chiefly of calcium phosphate and calcium carbonate . It also serves as a storage area for calcium, playing a large role in calcium balance in the blood.
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Bone cancer: A malignancy in bone. Primary bone cancer , one that begins in bone, is uncommon but it is not unusual for a malignancy to spread to bone from other parts of the body such as from breast , lung, and prostate.
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Bridge: A set of one or more false teeth supported by a metal framework, used to replace one or more missing teeth.
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Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).
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Cataract: A clouding of the lens of the eye. The normally clear aspirin-sized lens of the eye starts to become cloudy. The result is much like smearing grease over the lens of a camera. It impairs normal vision.

Chromosome: A visible carrier of the genetic information.
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Condition: The term "condition" has a number of biomedical meanings including the following:

1. An unhealthy state, such as in "this is a progressive condition."
2. A state of fitness, such as "getting into condition."
3. Something that is essential to the occurrence of something else; essentially a "precondition."
4. As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Depigmentation: Loss of color (pigment) from the skin, mucous membranes, hair, or retina of the eye.
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Dermatologist: A doctor who specializes in the diagnosis and treatment of skin problems.

Dilation: The process of enlargement, stretching, or expansion. The word "dilatation" means the same thing. Both come from the Latin "dilatare" meaning "to enlarge or expand."

Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Edema: The swelling of soft tissues as a result of excess water accumulation.
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Familial: A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis ) or environmental (such as tuberculosis ).
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Feet: The plural of foot, both an anatomic structure and a unit of measure.
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Forearm: The portion of the upper limb from the elbow to the wrist.
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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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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.

Genetic disease: A disease caused by an abnormality in an individual's genome .
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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.

Hypogonadism: A condition in which decreased production of gonadal hormones leads to below-normal function of the gonads and to retardation of sexual growth and development. (The gonads are the ovaries and testes and the hormones they normally produce include estrogen, progesterone, and testosterone.)

Hypoplasia: Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all.

Jaw: The bones below the mouth (the mandible) and the bone above the mouth just above the mouth (the maxilla). The word jaw comes from the Anglo-Saxon ceowan meaning to chew.
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Juvenile: Between infantile and adult as, for example, in juvenile rheumatoid arthritis (onset before age 16 years) and juvenile diabetes (type 1 diabetes).

Menstruation: The periodic blood that flows as a discharge from the uterus. Also called menorrhea, the time during which menstruation occurs is referred to as menses. The menses occurs at approximately 4 week intervals to compose the menstrual cycle.

Nasal: Having to do with the nose. Nasal drops are intended for the nose, not (for example) the eyes. The word "nasal" came from the Latin "nasus" meaning the nose or snout.

Nose: The external midline projection from the face.
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Onset: In medicine, the first appearance of the signs or symptoms of an illness as, for example, the onset of rheumatoid arthritis . There is always an onset to a disease but never to the return to good health. The default setting is good health.
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Ophthalmologist: An eye doctor. A physician practicing ophthalmology. An ophthalmologist is an M.D.

Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair.

Pigmentation: The coloring of the skin, hair, mucous membranes, and retina of the eye.
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Poikiloderma: Extra pigmentation of the skin demonstrating a variety of shades and associated with widened capillaries (telangiectasia) in the affected area.

Poikiloderma atrophicans with cataract: Better known as the Rothmund-Thomson syndrome , this is an hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness , cataracts , depressed nasal bridge, and malformations of the teeth, nails and bone.
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Poikiloderma congenita: Better known as the Rothmund-Thomson syndrome , this is an hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness , cataracts , depressed nasal bridge, and malformations of the teeth, nails and bone.
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Prognathism: An overly prominent jaw.

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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Progressive: Increasing in scope or severity. Advancing. Going forward. In medicine, a disease that is progressive is going from bad to worse.
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Radius: In anatomy , the radius is the smaller of the two bones on the thumb side of the forearm . (The bigger one is the ulna ).
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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Rothmund-Thomson syndrome: An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with growth retardation, premature baldness , juvenile cataracts , depressed nasal bridge, and malformations of the teeth, hair, and bone. There is also underdevelopment of the gonads, soft tissue contractures of the limbs, anemia, and a tendency to develop a type of bone cancer (osteogenic sarcoma).
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RTS: Rothmund-Thomson syndrome.

Sarcoma: One of a group of tumors usually arising from connective tissue. Most sarcomas are malignant. Many types are named after the type of cell, tissue, or structure involved, as in angiosarcoma, chondrosarcoma, fibrosarcoma, liposarcoma,and osteosarcoma.

Skeletal: Pertaining to the skeleton, the bones of the body which collectively provide the framework for the body.

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.

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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Testes: The male sex glands. They are located behind the penis in a pouch of skin called the scrotum. The testes produce and store sperm, and are also the body's main source of male hormones, such as testosterone. These hormones control the development of the reproductive organs and other male characteristics, such as body and facial hair, low voice, and wide shoulders.
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Tissue: A tissue in medicine is not like a piece of tissue paper. It is a broad term that is applied to any group of cells that perform specific functions. A tissue in medicine need not form a layer. Thus,

• The bone marrow is a tissue;
• Connective tissue consists of cells that make up fibers in the framework supporting other body tissues; and
• Lymphoid tissue is the part of the body's immune system that helps protect it from bacteria and other foreign entities.

Trait: In genetics, a trait refers to any genetically determined characteristic. In technical terms, a genetic trait is amenable to segregation analysis rather than quantitative analysis.
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Ulna: The larger of the two long bones within the forearm. (The smaller one is the radius). The ulna is on the same side of the arm as the little finger.

Wasting: 1. Gradual loss (for example, of weight), deterioration, emaciation. As in a wasting disease. 2. Excessive depletion. As in salt wasting, the excessive loss of salt.
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From the Doctors at MedicineNet.com

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