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

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

Disorder Subdivisions

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

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

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/Health_Info

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

Cancer.Net
1900 Duke Street
Suite 200
Alexandria, VA 22314
Tel: (703)299-0150
Fax: (703)684-8618
Tel: (888)651-3038
Email: contactus@plwc.org
Internet: http://www.cancer.net/patient

For a Complete Report

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: 1/12/2008
Copyright 1987, 1988, 1989, 1995, 1997, 1998, 1999, 2003 National Organization for Rare Disorders, Inc.

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