Xeroderma Pigmentosum

Important

It is possible that the main title of the report Xeroderma Pigmentosum is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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• Kaposi Disease (not Kaposi Sarcoma)
• XP
• Xeroderma Pigmentosum, Variant Type, XP-V

Disorder Subdivisions

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• Xeroderma Pigmentosum, Type A, I, XPA, Classical Form
• Xeroderma Pigmentosum, Type B, II, XPB
• Xeroderma Pigmentosum, Type C, III, XPC
• Xeroderma Pigmentosum, Type D, IV, XPD
• Xeroderma Pigmentosum, Type E, V, XPE
• Xeroderma Pigmentosum, Type F, VI, XPF
• Xeroderma Pigmentosum, Type G, VII, XPG
• Xeroderma Pigmentosum, Dominant Type

General Discussion

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Xeroderma pigmentosum (XP) is a group of rare inherited skin disorders characterized by a heightened reaction to sunlight (photosensitivity) with skin blistering occurring after exposure to the sun. In some cases, pain and blistering may occur immediately after contact with sunlight. Acute sunburn and persistent redness or inflammation of the skin (erythema) are also early symptoms of XP. In most cases, these symptoms may be apparent immediately after birth or occur within the next three years. In other cases, symptoms may not develop until later in childhood or, more rarely, may not be recognized until adulthood. Other symptoms of XP may include discolorations, weakness and fragility, and/or scarring of the skin.



Xeroderma pigmentosum affects the eyes as well as the skin, has been associated with several forms of skin cancer, and, in some cases, may occur along with dwarfism, mental retardation, and/or delayed development.



Several subtypes of XP (i.e., XP complementation groups) have been identified, based upon different defects in the body’s ability to repair DNA damaged by ultraviolet light (UV). According to the medical literature, the symptoms and findings associated with the classic form of xeroderma pigmentosum, known as XP, type A (XPA), may also occur in association with the other XP subtypes. These include: XP, type B (XPB); XP, type C (XPC); XP, type D (XPD); XP, type E (XPE); XP, type F (XPF); and XP, type G (XPG). These XP subtypes are transmitted as an autosomal recessive trait. In addition, another subtype of the disorder, known as XP, dominant type, has autosomal dominant inheritance.



In addition to the XP subtypes discussed above, researchers have identified another form of the disorder known as XP, variant type (XP-V). As with the other XP subtypes, symptoms and findings associated with the classic form of XP may also be seen in individuals with XP-V. XP-V cells have a normal or near normal ability to repair UV-induced DNA damage (nucleotide excisional repair); however, they are defective in replicating UV-damaged DNA during the division and reproduction of cells. Although the disorder’s mode of inheritance is unknown, most researchers suspect that XP-V is transmitted as an autosomal recessive trait.

Resources

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The Arc (a national organization on mental retardation)

1010 Wayne Ave

Suite 650

Silver Spring, MD 20910

Tel: (301)565-3842

Fax: (301)565-3843

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



Skin Cancer Foundation

245 Fifth Avenue

Suite 1403

New York, NY 10016

Fax: (212)725-5751

Tel: (800)754-6490

Email: info@skincancer.org

Internet: http://www.skincancer.org



NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse

1 AMS Circle

Bethesda, MD 20892-3675

USA

Tel: 3014954484

Fax: 3017186366

Tel: 8772264267

TDD: 3015652966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov



Xeroderma Pigmentosum Registry

Univ of Medicine and Dentistry of NJ

Department of Path

Med Sci Bldg Rm C-520

185 S Orange Ave

Newark, NJ 07103-2714

Tel: (973)972-4405



Xeroderma Pigmentosum Society

437 Snydertown Road

Craryville, NY 12521

USA

Tel: 5188512612

Fax: 5188512612

Email: xps@xps.org

Internet: http://www.xps.org

For a Complete Report

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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:   1/12/2005

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