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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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 367 free, full-text research articles on human participants. First 3 results:

Structural and sequence similarities of hydra xeroderma pigmentosum A protein to human homolog suggest early evolution and conservation.
 

Author(s): Apurva Barve, Saroj Ghaskadbi, Surendra Ghaskadbi

Journal: Biomed Res Int. 2013 ;2013():854745.

 

Xeroderma pigmentosum group A (XPA) is a protein that binds to damaged DNA, verifies presence of a lesion, and recruits other proteins of the nucleotide excision repair (NER) pathway to the site. Though its homologs from yeast, Drosophila, humans, and so forth are well studied, XPA ...

Last Updated: 1 Oct 2013

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Xeroderma pigmentosum complementation group f polymorphisms influence risk of glioma.
 

Author(s): Hong-Bin Cheng, Chen Xie, Ru-You Zhang, Shao-Shan Hu, Zhi Wang, Wu Yue

Journal: Asian Pac. J. Cancer Prev.. 2013 ;14(7):4083-7.

 

We conducted an exploratory investigation of whether variation in six common SNPs of xeroderma pigmentosum complementation group F (XPF) is associated with risk of glioma in a Chinese population. Six single nucleotide polymorphisms (SNPs) were genotyped in 207 glioma cases and 236 ...

Last Updated: 2 Sep 2013

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Basal cell carcinoma in a child with xeroderma pigmentosum: Clinical response with electron beam radiation therapy.
 

Author(s): Puja Sahai, Karuna Singh, Seema Sharma, Seema Kashyap, Bidhu Kalyan Mohanti

Journal: Indian J Dermatol Venereol Leprol. ;79(4):533-5.

 

Last Updated: 13 Jun 2013

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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 15 free, full-text review articles on human participants. First 3 results:

Genetic polymorphisms of xeroderma pigmentosum group D and prostate cancer risk: a meta-analysis.
 

Author(s): Hongcheng Zhu, Songyu Cao, Yun Liu, Xiangxiang Ding, Qianqian Wu, Hongxia Ma

Journal: J Cancer Res Ther. ;9(2):187-92.

 

The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene 2, ERCC2) is one of key genes involved in nucleotide excision repair and two potentially functional polymorphisms of XPD (Asp312Asn and Lys751Gln) have been widely investigated in ...

Last Updated: 17 Jun 2013

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Shining a light on xeroderma pigmentosum.
 

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

Journal: J. Invest. Dermatol.. 2012 Mar;132(3 Pt 2):785-96.

 

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and UV radiation-induced skin and mucous membrane cancers. Initially described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later, James Cleaver in San Francisco ...

Last Updated: 14 Feb 2012

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Xeroderma pigmentosum.
 

Author(s): Alan R Lehmann, David McGibbon, Miria Stefanini

Journal:

 

Xeroderma pigmentosum (XP) is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers. It is a rare autosomal recessive disorder and has been found in all continents and racial groups. Estimated ...

Last Updated: 22 Nov 2011

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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

 

Last Updated: 14 Mar 2014

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Last Updated: 14 Mar 2014

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