Xeroderma pigmentosum

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Xeroderma pigmentosum
ICD-10 Q82.1
ICD-9 757.33
DiseasesDB 14198
eMedicine derm/462  neuro/399
MeSH D014983

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Xeroderma pigmentosa, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient. This disorder leads to multiple basaliomas and other skin malignancies at a young age. In severe cases, it is necessary to avoid sunlight completely. The two most common causes of death for XP victims are metastatic malignant melanoma and squamous cell carcinoma[1]. XP is about six times more common in Japanese people[1] than in other groups.


File:Autorecessive.svg The most common defect in xeroderma pigmentosum is an autosomal recessive genetic defect whereby nucleotide excision repair (NER) enzymes are mutated, leading to a reduction in or elimination of NER.[2]

Unrepaired damage can lead to mutations, altering the information of the DNA in individual cells.

If mutations affect important genes, like tumour suppressor genes (e.g. p53) or proto oncogenes then this disorder may lead to cancer.

Patients exhibit elevated risk of developing cancer, such as basal cell carcinoma.

Normally, damage to DNA in epidermal cells occurs during exposure to UV light.

The absorption of the high energy light leads to the formation of pyrimidine dimers, namely CPD's (cyclobutane-pyrimidine-dimers) and 6-4PP's (pyrimidine-6-4-pyrimidone photoproducts).

The normal repair process entails nucleotide excision.

The damage is excised by endonucleases, then the gap is filled by a DNA polymerase and "sealed" by a ligase.


There are 7 complementation groups, plus one variant form :

Type Diseases Database OMIM Gene Locus Also known as/Description
Type A, I, XPA Template:DiseasesDB2 278700 XPA 9q22.3 Xeroderma pigmentosum group A. Classical form of XP.
Type B, II, XPB Template:DiseasesDB2 133510 XPB 2q21 Xeroderma pigmentosum group B.
Type C, III, XPC Template:DiseasesDB2 278720 XPC 3p25 Xeroderma pigmentosum group C.
Type D, IV, XPD Template:DiseasesDB2 278730 278800 XPD ERCC6 19q13.2-q13.3 , 10q11 Xeroderma pigmentosum group D or De Sanctis-Cacchione syndrome. De Sanctis-Cacchione syndrome can be considered a subtype of XPD.
Type E, V, XPE Template:DiseasesDB2 278740 DDB2 11p12-p11 Xeroderma pigmentosum group E.
Type F, VI, XPF Template:DiseasesDB2 278760 ERCC4 16p13.3-p13.13 Xeroderma pigmentosum group F.
Type G, VII, XPG Template:DiseasesDB2 278780 133530 RAD2 ERCC5 13q33 Xeroderma pigmentosum group G.
Type V, XPV 278750 POLH 6p21.1-p12 Xeroderma pigmentosum variant. XPV patients suffer from mutation in a gene that codes for a specialized DNA polymerase called polymerase-η (eta). Polymerase-η can replicate over the damage and is needed when cells enter S-phase in the presence of a DNA-damage.


Some of the most common symptoms of XP include:

  • An unusually severe sunburn after a short sun exposure. The sunburn may last for several weeks. The sunburn usually occurs during a child's first sun exposure.
  • Development of many freckles at an early age .
  • Irregular dark spots on the skin .
  • Thin skin .
  • Excessive dryness of skin .
  • Rough-surfaced growths (solar keratoses), and skin cancers .
  • Eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot, and clouded, .
  • Blistering or freckling on minimum sun exposure.
  • Premature aging of skin, lips, eyes, mouth and tongue.
  • Crusting skin
  • Spidery blood vessels
  • Scaly skin
  • Oozing raw skin surface
  • Limited growth of hair on chest and legs.


The most important part of managing the condition is reducing exposure to the sun. The number of keratoses can be reduced with Isotretinoin ([2]) (though there are significant side-effects.) Existing keratoses can be treated using cryotherapy or fluorouracil.

In Popular Culture

Christopher Snow, the protagonist and narrator of Dean Koontz' Moonlight Bay Trilogy of novels (Fear Nothing, Seize The Night and the to-be-completed Ride The Storm), has severe enough XP that he must avoid sunlight and as much artificial light as possible at all costs, living his life at night and then only by dim bulbs and candlelight, though always maintaining a positive and envigorated attitude about life, even authoring a best-selling autobiographical book on living with XP.

In Jodi Picoult's novel 'Second Glance' nine year old character Ethan Wakeman suffers from XP so severe he can only leave the house after sunset.

Alejandro Amenábar's Award-winning film, The Others, centers around a woman (Nicole Kidman) whose children suffer from XP and must be kept indoors, behind closed curtains, at all times.

'A Cool Moonlight', written by Angela Johnson, also deals with eight year old Lila who suffers from XP. Her XP is so bad that she is sometimes burned by streetlamps or certain lightbulbs.

Yui stars in a romantic Japanese movie Taiyō no Uta, where she plays the lead character, a street musician named Kaoru Amane, who is diagnosed with Xeroderma Pigmentosum and only performs at night because of this disease. Even with this diagnosis, she chases her dreams of becoming a singer and meets Kōji Fujishiro (Takashi Tsukamoto), who also has a passion for music and whom Kaoru eventually falls in love with. This story was also the basis for a Japanese TV drama series, also called "Taiyō no Uta", starring Erika Sawajiri and Takayuki Yamada in the roles of Kaoru and Kōji.


  1. 1.0 1.1 Li, Lei (January 8, 2007). "Chapter 3 Nucleotide Excision Repair". DNA REPAIR, GENETIC INSTABILITY, AND CANCER. World Scientific Publishing. pp. 75–76. ISBN 9812700145.
  2. E. C. Friedberg, G. C. Walker, W. Siede, R. D. Wood, R. A. Schultz and T. Ellenberger (2006). DNA repair and mutagenesis. Washington: ASM Press. p. 1118. ISBN 978-1555813192.

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Template:Congenital malformations and deformations of integument Template:DNA repair-deficiency disorder

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