Xeroderma pigmentosum

Common Name(s)

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop in infancy or early childhood. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least eight genes have been identified. The condition is inherited in an autosomal recessive manner.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Xeroderma pigmentosum" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Xeroderma pigmentosum" returned 448 free, full-text research articles on human participants. First 3 results:

[Xeroderma pigmentosum. About 2 Mauritanian cases].
 

Author(s): Mariam Kebe, Ould Sidi Cheikh, Salma Yahya, NasserDine Ould, Mohamed Baba, Mamadou Ball

Journal: Tunis Med. 2015 Jun;93(6):400-2.

 

Last Updated: 8 Dec 2015

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Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome.
 

Author(s): Akira Sassa, Nagisa Kamoshita, Yuki Kanemaru, Masamitsu Honma, Manabu Yasui

Journal:

 

Clustered DNA damage is defined as multiple sites of DNA damage within one or two helical turns of the duplex DNA. This complex damage is often formed by exposure of the genome to ionizing radiation and is difficult to repair. The mutagenic potential and repair mechanisms of clustered ...

Last Updated: 12 Nov 2015

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Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.
 

Author(s): Nikola A Bowden, Natalie J Beveridge, Katie A Ashton, Katherine J Baines, Rodney J Scott

Journal:

 

Children with the recessive genetic disorder Xeroderma Pigmentosum (XP) have extreme sensitivity to UV-light, a 10,000-fold increase in skin cancers from age 2 and rarely live beyond 30 years. There are seven genetic subgroups of XP, which are all resultant of pathogenic mutations ...

Last Updated: 18 Jul 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Xeroderma pigmentosum" returned 23 free, full-text review articles on human participants. First 3 results:

Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation.
 

Author(s): Marjo-Riitta Puumalainen, Peter RĂ¼themann, Jun-Hyun Min, Hanspeter Naegeli

Journal: Cell. Mol. Life Sci.. 2016 Feb;73(3):547-66.

 

The cellular defense system known as global-genome nucleotide excision repair (GG-NER) safeguards genome stability by eliminating a plethora of structurally unrelated DNA adducts inflicted by chemical carcinogens, ultraviolet (UV) radiation or endogenous metabolic by-products. Xeroderma ...

Last Updated: 15 Jan 2016

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Xeroderma pigmentosum group D polymorphisms and esophageal cancer susceptibility: a meta-analysis based on case-control studies.
 

Author(s): Rong Yang, Chong Zhang, Armah Malik, Zhi-Da Shen, Jian Hu, Yi-He Wu

Journal: World J. Gastroenterol.. 2014 Nov;20(44):16765-73.

 

To clarify the effects of the xeroderma pigmentosum group D (XPD) Asp312Asn and Lys751Gln gene polymorphisms on the risk of esophageal cancer (EC).

Last Updated: 3 Dec 2014

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Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.
 

Author(s): Kenneth H Kraemer, John J DiGiovanna

Journal: Photochem. Photobiol.. ;91(2):452-9.

 

In 1968, Dr. James Cleaver reported defective DNA repair in cultured cells from patients with xeroderma pigmentosum. This link between clinical disease and molecular pathophysiology has sparked interest in understanding not only the clinical characteristics of sun sensitivity, damage ...

Last Updated: 10 Mar 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Xeroderma Pigmentosum Patient Experiences
 

Status: Recruiting

Condition Summary: Xeroderma Pigmentosum

 

Last Updated: 12 May 2010

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Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
 

Status: Recruiting

Condition Summary: Xeroderma Pigmentosum; Melanoma; Squamous Cell Carcinoma; Basal Cell Carcinoma; Skin Cancer

 

Last Updated: 11 May 2016

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Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
 

Status: Recruiting

Condition Summary: Cockayne Syndrome; Skin Cancer; Xeroderma Pigmentosum; Trichothiodystrophy; Genodermatosis

 

Last Updated: 11 May 2016

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