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This document provides information about Xeroderma Pigmentosum (XP), a rare inherited disease that causes extreme sun sensitivity. It discusses the signs and symptoms of XP which include severe sunburn after brief sun exposure and early development of skin cancers. It explains that XP is caused by defects in the DNA repair system, describes the different types of XP, and provides tips for treatment and protection from UV light to prevent skin and eye damage.
This document provides information about Xeroderma Pigmentosum (XP), a rare inherited disease that causes extreme sun sensitivity. It discusses the signs and symptoms of XP which include severe sunburn after brief sun exposure and early development of skin cancers. It explains that XP is caused by defects in the DNA repair system, describes the different types of XP, and provides tips for treatment and protection from UV light to prevent skin and eye damage.
This document provides information about Xeroderma Pigmentosum (XP), a rare inherited disease that causes extreme sun sensitivity. It discusses the signs and symptoms of XP which include severe sunburn after brief sun exposure and early development of skin cancers. It explains that XP is caused by defects in the DNA repair system, describes the different types of XP, and provides tips for treatment and protection from UV light to prevent skin and eye damage.
What is xeroderma pigmentosum The eyes of a person with XP are often
(XP)? painfully sensitive to the sun and may Xeroderma pigmentosum (pronounced: easily become irritated, bloodshot, and zer-o-der-ma/pig-men-toe-sum), XP, is a clouded. Noncancerous and cancerous very rare inherited disease that causes growths on the eyes may occur. extreme sensitivity to the sun’s ultraviolet Skin cancers rays. Unless patients with XP are protect- A series of skin changes leads to the for- ed from sunlight, their skin and eyes may mation of skin cancers. The first skin can- be severely damaged. This damage may cer may develop before a person is 10 lead to cancers of the skin and eye. XP years old, and many other skin cancers has been identified in people of every may continue to form in the future. ethnic group all over the world. Cancers develop most often on the face and other sun-exposed parts of the body What are the signs of XP? including the eyes, lips, and tip of the Many persons with XP will get an unusu- tongue. ally severe sunburn after a short sun exposure. T h e sunburn will last much All three common types of skin cancer longer than expected, perhaps for several (basal cell carcinoma, squamous cell car- weeks. This type of sunburn will usually cinoma, and melanoma) occur much occur during a child’s first sun exposure, more often in people with XP. Basal cell and it may be a clue to the diagnosis of and squamous cell carcinomas usually do XP. However, some people with XP will not spread to internal organs, but they do not get a sunburn more easily than oth- destroy the local skin and underlying tis- ers, and the disease will be undetected sues. Melanoma can be fatal if it is not until unusual skin changes appear over removed before it has spread to internal time. organs. Most patients with XP will develop many Other medical problems freckles at an early age. Continued sun In addition to skin and eye changes, exposure will lead to further changes in about 20 percent of XP patients may the skin, including irregular dark spots, have one or more nerve-related problems thin skin, excessive dryness, rough-sur- including the following: deafness, poor faced growths (solar keratoses), and skin coordination, spastic muscles, or devel- cancers. These skin changes will resem- opmental delay. A few people with XP will ble those of elderly people who have have all of these problems, and some spent many years in the sun. In people also may be very short and may not with XP, these changes caused by sun develop normal sexual characteristics. damage often begin in infancy, and almost always before age 20. Patient Information Publications 1 Understanding Xeroderma Pigmentosum Some people with XP will develop only Seven of the eight types show reduced mild neurological symptoms in late child- activity in one DNA repair system. hood or adolescence. Whenever neuro- The eighth form shows reduced activity in logical problems do occur, however, they another DNA repair system. usually tend to worsen over time. This last type of XP is referred to as the What causes XP? “variant” form, while the other seven Two factors combine to cause the abnor- types are known as groups A, B, C, D, E, malities in XP. First, a person inherits F, and G. traits from each parent which, when com- bined, lead to an unusual sensitivity to the damaging effects of ultraviolet light. Can XP be treated? There is no cure for XP, but much can be Second, exposure to the sun, which con- done to prevent and treat some of the tains ultraviolet light, leads to changes in problems it causes: the skin and eyes. • protection from ultraviolet light • frequent skin and eye examinations Problems with DNA damage and repair • prompt removal of cancerous tissue Ultraviolet light damages the DNA in cells • neurological examination and disrupts normal cell functioning. DNA • psychosocial care. (deoxyribonucleic acid) within our genes contains all the coded information needed Problems from ultraviolet light to direct cell functions. As soon as the diagnosis of XP is sus- Damaged DNA is mended by the DNA pected, a patient should be completely repair system. But the DNA repair sys- protected from ultraviolet rays. This will tems of people with XP do not function greatly reduce the frequency and severity properly. As a result, unrepaired DNA of skin and eye problems (including can- damage builds up and causes cancerous cers). cell changes or cell death. There are two types of ultraviolet light: short wavelength and long wavelength. How is XP diagnosed? The main source of harmful, short wave- XP can usually be diagnosed in the labo- length ultraviolet light is sunlight. These ratory by measuring the DNA repair ultraviolet rays are also found in the light defect. This test is performed on skin or given off by germicidal lamps, artificial blood obtained from the patient. Soon, sunlamps (including those found in tan- only a few cells may be needed to make ning booths), and mercury vapor lamps. this diagnosis. Ultraviolet-measuring instruments, if available, may be used to detect sources Different types of XP of ultraviolet radiation. There are eight genetic types of XP. Each type is characterized by a different genet- The small amount of long wavelength ic change in the DNA repair system. ultraviolet light from sunlight that has
Patient Information Publications 2 Understanding Xeroderma Pigmentosum
passed through window glass (or produced by unfiltered dayl i g h t fluorescent bulbs) is of less risk but p r o b ably should be avoided. Regular incandescent light bulbs do not give off ultraviolet light. To limit a person’s exposure to harmful ultraviolet rays, outdoor activity should be restricted to nighttime. Damaging ultraviolet radiation from sunlight is most intense at midday. In some patients, even a few minutes of sun exposure at midday may cause a severe sunburn. If daytime exposure is unavoid- able, it should be limited to the very early morning or very late afternoon hours— a time of day when your shadow is much longer than your height. When XP patients are indoors or in a car, the windows should always be closed because glass blocks harmful ultraviolet rays from sunlight. Daily protection outdoors Tips for protecting children • When patients with XP are outdoors in • Children with XP should not play out- daylight, they should wear long doors during the day unless they are sleeves, long pants, and wide-brimmed under ultraviolet light-blocking shelters hats. Two layers of clothing protect and away from reflective surfaces such more than one layer. Tightly woven as snow, sand, or w a t e r. Clouds do not fabrics generally give more sun protec- block out harmful rays. tion than loose weaves. • Special arrangements for children with Wear clothing that you can’t see the XP should be made at school to light through. Some companies make ensure that they are not exposed to light-weight clothing specifically sunlight from an open window, that designed to provide a high degree of they are not exposed to any unfiltered sun protection. (bare) fluorescent light bulbs, and that • Choose eyeglasses or sunglasses they are not permitted outside for gym, specifically labeled to block ultraviolet recess, fire drills, or other activities. light completely. Glasses with side- shields protect the eyelids and skin around the eyes. Long hair styles help protect the neck and ears.
Patient Information Publications 3 Understanding Xeroderma Pigmentosum
• While sun protection by clothing is Examination by a dermatologist (a doctor most effective, any skin not covered by specializing in skin disorders) should take clothing or hair should be protected by place at least every 3 to 6 months. The sunblocks such as zinc oxide, titanium dermatologist can help detect skin can- dioxide, sun-blocking makeup, or sun- cers before they have grown or spread to screens. Sunscreens with a sun protec- internal organs. A small piece of suspi- tion factor of 15 or higher should be cious skin growths may be removed used. They should be applied at (biopsied) and examined for cancer. least 30 minutes before going out in the sun. Lip moisturizers containing sun Prompt removal of cancerous tissue blocking agents also give protection. Skin cancer treatment for XP patients is • A sunscreen may also be used indoors similar to that for anyone with skin can- to protect against unrecognized cer. Treatment may include removal of the sources of ultraviolet light. cancer by freezing, use of an electric nee- dle, or surgery. Depending on the size, What else can cause harm type, and location of the cancer, a small besides ultraviolet light? cancerous growth can usually be treated Laboratory tests indicate that sunlight is in a doctor’s office. Large tumors may the major DNA damaging agent to the require extensive surgery and skin graft- cells of XP patients. However, tobacco ing. Dermabrasion or removing large por- smoke and some drugs (such as pso- tions of skin with grafting has been used ralens, used with ultraviolet light for treat- for some patients with extensive involve- ing psoriasis) can cause similar DNA ment. X-ray treatment has also been damage. People with XP should avoid used safely. Precancerous growths, such exposure to tobacco smoke and should as solar keratoses, may be frozen with not use tobacco products because they liquid nitrogen. are probably at greater risk for develop- Other skin treatments ing lung cancer. Some patients with XP who have had many skin cancers have prevented new What more can I do? cancers by taking a drug called Frequent skin examinations isotretinoin, a derivative of vitamin A. Patients should be examined often by a However, this medicine has serious side family member or another person who has effects that prevent its use in all but the been taught to recognize the signs of skin most severe cases. cancer. Any suspicious spot or growth A cream containing a DNA repair enzyme should be immediately reported to the is currently being studied. patient's doctor. Examinations should include the eyes, scalp, ears, mouth, tongue, nostrils, and all other areas of the skin, even those that do not have sun exposure (for example, the buttocks).
Patient Information Publications 4 Understanding Xeroderma Pigmentosum
Frequent eye examinations reductions in their DNA repair ability are Examination by an ophthalmologist (a the most likely to have such problems. doctor specializing in the eye) should take place regularly. The ophthalmologist Psychosocial aspects of XP can help detect eye cancers and other Persons with XP and their families face lesions before they become a problem. many challenges in daily living. This dis- ease has many long-term physical, Artificial tears may soothe abnormally dry emotional, social, and economic or irritated eyes. If the corneas of the consequences. eyes become so clouded that the patient cannot see, a corneal transplant may be Skin changes, including cancers at an considered to restore vision. early age and other physical problems, may affect school experiences, employ- Treatment of neurological problems ment opportunities, recreational activities, About 20 percent of patients develop and social relationships. neurological problems. While nothing can Coping with chronic illness and disability prevent or stop these problems from is very difficult. Some people have prob- occurring, it is important to be aware of lems with health insurance or finances them. Early testing and treatment for while others may feel anxious or potential neurological problems may depressed. Persons with XP need a great lessen the unfortunate results of unde- deal of support from family, friends, and tected abnormalities. their communities to provide encourage- For example, detection of hearing loss ment, build confidence, and give hope. and subsequent use of a hearing aid may Patients with XP and their families may lessen difficulties in communication and obtain assistance from their physician, in school. Patients with XP should have nurse, or social worker. periodic neurological examinations. What is the life span of people The role of sun exposure in the with XP? development of neurological problems Many people with XP will die at an early Researchers do not believe that sun age from skin cancer if they are untreated exposure affects the development of neu- and unprotected from sunlight. However, rological problems in patients with XP. if a person is diagnosed early, has no The sun’s ultraviolet rays are absorbed severe neurological problems, is protect- by the skin and do not penetrate the ed from ultraviolet light, and followed brain or other internal organs. carefully for early cancer detection, a nor- mal life span is possible. The life spans of But no matter how small his or her sun most persons with XP will fall b e t w e e n exposure, a person with XP who is geneti- these extremes. A reduced life span is to cally prone to develop neurological symp- be expected, but there are great differ- toms will do so. While the cause of the ences among patients with XP. neurological problems is unclear, it appears that persons with the most severe
Patient Information Publications 5 Understanding Xeroderma Pigmentosum
What part does heredity play? The probability of a person with XP hav- XP is a recessive condition. This means ing a child with XP is very small. This that a person must have two XP genes would occur only if the other parent also (one from each parent) to develop the has XP or is a carrier for the XP trait. In disease. Both parents of a person with some cases, carriers of the XP trait can XP are carriers of the XP trait because be detected by a laboratory test of their each parent has one XP gene and one DNA repair genes. normal gene. Neither parent has symp- toms of XP. Recent advances in under- What research is being done? standing XP make it possible to test if Researchers in the United States and someone is a carrier of some forms of XP throughout the world are learning about by analyzing that person’s DNA. XP and trying to correct the DNA repair defect in laboratory-grown cells from patients with XP. The genes causing most If the parents of a child with XP types of XP have been identified. Many have another child, will that child laboratories in the US, Europe, and also have XP? Japan are studying XP genes and trying There is a one in four chance that any to understand what they do. Clinical stud- child of the same parents of a patient with ies on skin cancer prevention with oral XP will also have XP. XP among affected medications and evaluating patients with children in the same family is usually of unusual features are also being conduct- similar severity. For example, if the first ed at the National Institutes of Health. child with XP has severe neurological problems, the next affected child may Where can I get more have similar problems. information? Information for patients and collection Prenatal diagnosis of XP has been done of clinical data about symptoms, treat- in research laboratories, but it is not a ment, and progress of patients with XP routine test. Parents of a child with XP is available from the organizations below. should seek genetic counseling before considering having another child. Support groups have also formed and can be contacted as follows: Can a person with XP have United States children? Most people with XP have normal sexual Xeroderma Pigmentosum society development and functioning, and they 437 Snydertown RD are able to have children. The advisability Crayville N.Y. 12521 of a person with XP becoming a parent (877) XPS-CURE
would be affected by the person’s own www.xps.org
ability to care for a family.
Patient Information Publications 6 Understanding Xeroderma Pigmentosum
Xeroderma Pigmentosum Family Local Branches of the American
Support Group Cancer Society
8375 Folsom BLVD Suite 201 (for cancer information)
Sacramento CA, 95826
1-949-218-9401
www.xpfamilysupport.org
This information is prepared specifically for
patients participating in clinical research at Great Britain the NIH Clinical Center at the National Institutes of Health and is not necessarily XP Support Group applicable to individuals who are patients elsewhere. If you have questions about the 2 Strawberry Close information presented here, talk to a member Prestwood 2006 of your health care team. Great Missenden Where applicable, brand names of commer- Bucks cial products are provided only as illustrative examples of acceptable products, and does Hp16056 not imply endorsement by NIH; nor does the UK fact that a particular brand name product is www.xpsupportgroup.org.uk not identified imply that such product is unsatisfactory. National Institutes of Health NIH Clinical Center Your dermatologist can answer Bethesda, MD 20892 specific questions about this Questions about the Clinical Center? disease. Additional information may OCCC@cc.nih.gov be obtained from these sources:
Task Force on Xeroderma
Pigmentosum
American Academy of
Dermatology
Box 4014
Schaumburg, Illinois 60168-4014
(708) 330-0230
National Cancer Institute
Office of Cancer Communications
31 Center Drive MSC 2580
Building 31 Room 10A16
Bethesda, Maryland 20892-2580
(for cancer information)
1-800-422-6237 (9 a.m. to 4:30 p.m.)
Patient Information Publications 7 Understanding Xeroderma Pigmentosum