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

Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
 

Author(s): Salima Bensenouci, Lotfi Louhibi, Hubert De Verneuil, Khadidja Mahmoudi, Nadhira Saidi-Mehtar

Journal: Biomed Res Int. 2016 ;2016():2180946.

 

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder. Considering that XP patients have a defect of the nucleotide excision repair (NER) pathway which enables them to repair DNA damage caused by UV light, they have an increased risk of developing skin and eyes cancers. ...

Last Updated: 14 Jul 2016

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Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
 

Author(s): Daiki Kondo, Atsuko Noguchi, Hiroaki Tamura, Satoko Tsuchida, Ikuko Takahashi, Hiroki Kubota, Tamami Yano, Chikako Oyama, Yukio Sawaishi, Shinichi Moriwaki, Tsutomu Takahashi

Journal: Tohoku J. Exp. Med.. 2016 ;239(3):231-5.

 

Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP) and Cockayne syndrome (CS). In ...

Last Updated: 11 Jul 2016

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Circadian Rhythms of Oxidative Stress Markers and Melatonin Metabolite in Patients with Xeroderma Pigmentosum Group A.
 

Author(s): Rie Miyata, Naoyuki Tanuma, Hiroshi Sakuma, Masaharu Hayashi

Journal: Oxid Med Cell Longev. 2016 ;2016():5741517.

 

Xeroderma pigmentosum group A (XPA) is a genetic disorder in DNA nucleotide excision repair (NER) with severe neurological disorders, in which oxidative stress and disturbed melatonin metabolism may be involved. Herein we confirmed the diurnal variation of melatonin metabolites, oxidative ...

Last Updated: 23 May 2016

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

Xeroderma Pigmentosum.
 

Author(s): Jennifer O Black

Journal: Head Neck Pathol. 2016 Jun;10(2):139-44.

 

Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma ...

Last Updated: 21 Apr 2016

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 21 Apr 2017

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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: 21 Apr 2017

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