National Organization for Rare Disorders, Inc.
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.
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.
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Genetic and Rare Diseases (GARD) Information Center
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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Rare Cancer Alliance
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Skin Cancer Foundation
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Xeroderma Pigmentosum Society, Inc.
- 437 Snydertown Road,
- Craryville, NY 12521
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- Website: http://www.xps.org/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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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.
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Last Updated: 12/27/1969
Copyright 2003 National Organization for Rare Disorders, Inc.
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