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

Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.
 

Author(s): Lenah Alwatban, Yousef Binamer

Journal: Ann Saudi Med. ;37(3):240-244.

 

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system.

Last Updated: 31 Dec 1969

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New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome.
 

Author(s): Sabrina Pinheiro Santiago, Howard Lopes Ribeiro Junior, Juliana Cordeiro de Sousa, Daniela de Paula Borges, Roberta Taiane Germano de Oliveira, Izabelle Rocha Farias, Marília Braga Costa, Allan Rodrigo Soares Maia, Mayumi da Nóbrega Ito, Silvia Maria Meira Magalhães, Ronald Feitosa Pinheiro

Journal: Leuk. Res.. 2017 07;58():73-82.

 

The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. To assess the functional role between these polymorphisms and MDS, we evaluated 189 ...

Last Updated: 31 Dec 1969

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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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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 28 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 with bilateral ocular surface squamous neoplasia and review of the literature.
 

Author(s): Charudutt Kalamkar, Nishant Radke, Amrita Mukherjee, Snehal Radke

Journal:

 

Xeroderma pigmentosum is a rare genetic disorder associated with various ocular malignancies. Here we report a single paediatric case of xeroderma pigmentosum with bilateral ocular surface squamous neoplasia (OSSN) presenting with diffuse lesion in one eye and a large mass in the ...

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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Clinical Trial Information This information is provided by ClinicalTrials.gov

XPAND Trial: Enhancing XP Photoprotection Activities - New Directions
 

Status: Recruiting

Condition Summary: Xeroderma Pigmentosum

 

Last Updated: 23 Apr 2018

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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: 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: 30 Mar 2018

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