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Copyright 1987, 1988, 1989, 1995, 1997, 1998, 1999, 2003
Synonyms of Xeroderma Pigmentosum
- Kaposi Disease (not Kaposi Sarcoma)
- Xeroderma Pigmentosum, Variant Type, XP-V
- XP
Disorder Subdivisions
- Xeroderma Pigmentosum, Dominant Type
- 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
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.
Organizations related to Xeroderma Pigmentosum
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Cancer.Net
American Society of Clinical Oncology
2318 Mill Road
Suite 800
Alexandria VA 22314
Phone #: 571-483-1780
800 #: 888-651-3038
e-mail: contactus@cancer.net
Home page: http://www.cancer.net/patient
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: NIAMSinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info
- Rare Cancer Alliance
1649 North Pacana Way
Green Valley AZ 85614
Phone #: 520-625-5495
800 #: --
e-mail: sharon.lane@rare-cancer.org
Home page: http://www.rare-cancer.org
- Skin Cancer Foundation
149 Madison Avenue
Suite 901
New York NY 10016
Phone #: 212-725-5176
800 #: 800-754-6490
e-mail: info@skincancer.org
Home page: http://www.skincancer.org
- 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
Phone #: 973-972-4405
800 #: --
e-mail: N/A
Home page: N/A
- Xeroderma Pigmentosum Society
437 Snydertown Road
Craryville NY 12521
Phone #: 518-851-2612
800 #: --
e-mail: xps@xps.org
Home page: http://www.xps.org
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