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

Alert Regarding Cisplatin-induced Severe Adverse Events in Cancer Patients with Xeroderma Pigmentosum.
 

Author(s): Makoto Sumiyoshi, Hiroshi Soda, Noriaki Sadanaga, Hirokazu Taniguchi, Takaya Ikeda, Hiroshi Maruta, Yosuke Dotsu, Daiki Ogawara, Yuichi Fukuda, Hiroshi Mukae

Journal: Intern. Med.. 2017 ;56(8):979-982.

 

Xeroderma pigmentosum (XP) is a genetic disease in which DNA repair mechanisms are impaired. Cisplatin (CDDP) exerts cytotoxic effects by forming mainly intrastrand DNA cross-links, and sensitivity to CDDP depends on the DNA repair system. Several in vitro studies have suggested that ...

Last Updated: 31 Dec 1969

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Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3.
 

Author(s): Erina Kakumu, Seiya Nakanishi, Hiromi M Shiratori, Akari Kato, Wataru Kobayashi, Shinichi Machida, Takeshi Yasuda, Naoko Adachi, Naoaki Saito, Tsuyoshi Ikura, Hitoshi Kurumizaka, Hiroshi Kimura, Masayuki Yokoi, Wataru Sakai, Kaoru Sugasawa

Journal: Genes Cells. 2017 Mar;22(3):310-327.

 

In the mammalian global genome nucleotide excision repair pathway, two damage recognition factors, XPC and UV-DDB, play pivotal roles in the initiation of the repair reaction. However, the molecular mechanisms underlying regulation of the lesion recognition process in the context ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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

Xeroderma pigmentosum-Cockayne syndrome complex.
 

Author(s): Valerie Natale, Hayley Raquer

Journal:

 

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 18 Oct 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: 18 Oct 2017

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