Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Xeroderma Pigmentosum


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
  • Cancer.Net
    American Society of Clinical Oncology
    Alexandria VA 22314
    Phone #: 571-483-1780
    800 #: 888-651-3038
    e-mail: contactus@cancer.net
    Home page: http://www.cancer.net/patient
  • 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
  • Skin Cancer Foundation
    245 Fifth Avenue
    New York NY 10016
    Phone #: N/A
    800 #: 800-754-6490
    e-mail: info@skincancer.org
    Home page: http://www.skincancer.org
  • The Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: info@thearc.org
    Home page: http://www.thearc.org/
  • Xeroderma Pigmentosum Registry
    Univ of Medicine and Dentistry of NJ
    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



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