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Xeroderma pigmentosum

{{{Name|Xeroderma pigmentosum}}}
[[Image:{{{Image}}}|190px|center|]]
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ICD-10 Q82.1
ICD-O: {{{ICDO}}}
ICD-9 757.33
OMIM }}}
MedlinePlus }}}
eMedicine }}}
DiseasesDB }}}

Xeroderma pigmentosum is a genetic disorderof DNA repairin which the body's normal ability to fix mutations caused by UVlight is disabled. This leads to multiple basaliomasand other skin malignancies at a young age. Therefore in very severe cases it is necessary to avoid all sunlight.

Inhaltsverzeichnis

  • 1 Types
  • 2 Causes
  • 3 Treatment
  • 4 In popular culture
  • 5 See also
  • 6 External links

Types

There are eight types.

  • Dominant Type (OMIM194400)
  • Type A, I, XPA, Classical Form (OMIM278700)
  • Type B, II, XPB (OMIM133510)
  • Type C, III, XPC (OMIM278720)
  • Type D, IV, XPD (OMIM278730)
  • Type E, V, XPE (OMIM278740)
  • Type F, VI, XPF (OMIM278760)
  • Type G, VII, XPG (OMIM278780)

Causes

Damage to DNA is a frequent occurrence, and the body has mechanisms to fix it by cutting out the damaged segment and replacing the resulting gap in the DNA with the correct base pairs from the opposing strand ("nucleotide excision repair"). The enzymes DNA polymeraseand ligasefulfil this role. The most common defect in xeroderma pigmentosum is an inherited defect that alters the nucleotide excision repair enzymes, and hinders their functionality. Therefore, DNA damage is not readily fixed.

Treatment

The most important part of managing the condition is reducing exposure to the sun.

The number of keratosescan be reduced with Isotretinoin([1]) (though there are significant side-effects.) Existing keratosescan be treated using cryotherapyor fluorouracil. ([2]).

In popular culture

A notable fictional character who sufferers XP is Christopher Snow featured in the novels Fear Nothing and Seize the Night by Dean R. Koontz.

The film The Othersfeatures characters who suffer from XP.

During the second season of ABC's Extreme Makeover: Home Edition, the Pope family was selected for an Extreme Makeover as their daughter, Shelly, suffers from XP. Later, ABC and the Popes teamed Walt Disney Worldto give XP children a special treat--Walt Disney World made a special night-time opening (midnight to 4 AM) so XP children could spend time at the popular park. Footage from this event aired as part of an Extreme Makeover holiday special on December 11, 2005.

See also

  • Cockayne syndrome

External links

  • XP Society
  • XP Family Support Group
  • Emedicine
  • Web Site of a Short Film about an Xeroderma pigmentosum (XP) Patient. Film is directed by Kimberly Williams Paisley
  • Article About the Xeroderma pigmentosum (XP) Society by William Lambers (pdf format)
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This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/Xeroderma+pigmentosum Wikipedia article Xeroderma pigmentosum.

 
  All text is available under the terms of the GNU Free Documentation License