Skip to main content
SpringerLink
Log in
Book cover

Molecular Mechanisms of Xeroderma Pigmentosum pp 138–143Cite as

Population Distribution of Xeroderma Pigmentosum

  • Chapter

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 637))

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disease caused by defects in the normal repair of DNA of various cutaneous and ocular cell types damaged by exposure to sunlight.1–3 Hebra and Kaposi reported the disease initially in 1874.4 It generally shows early onset of symptoms, hence mostly affecting children and is characterized by cutaneous and ocular pigmentary changes such as freckles, photophobia, conjunctivitis, corneal keratitis and ulcers. If the disease is not controlled at this level, there is a risk of developing malignancy in the future, the major cause of death amongst patients.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature 1968; 218:652–656.

    Article  PubMed  CAS  Google Scholar 

  2. Cleaver JE. DNA damage and repair in light-sensitive human skin disease. J Invest Dermatol 1970; 54:181–195.

    Article  PubMed  CAS  Google Scholar 

  3. Cleaver JE, Carter DM. Xeroderma pigmentosum variants: influence of temperature on DNA repair. J Invest Dermatol 1973; 60:29–32.

    Article  PubMed  CAS  Google Scholar 

  4. Hebra F, Kaposi M. On diseases of the skin including the exanthemata. Vol 3 Tay W, trans. London. The New Sydenham Society 1874; 61:252–258.

    Google Scholar 

  5. Robbins JH, Kraemer KH, Lutzner MA et al. Xeroderma Pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair. Ann Inter Med 1974; 80:221–248.

    CAS  Google Scholar 

  6. Neel JV, Kodai M, Brewer R et al. The incidence of consanguineous matings in Japan: with remarks on the estimation of comparative gene frequencies and the expected rate of appearance of induced recessive mutations. Am J Hum Genet 1949; 1:156–178.

    PubMed  CAS  Google Scholar 

  7. Thielmann HW, Edler L, Popanda O et al. Xeroderma pigmentosum patients from the federal republic of Germany: decrease in post-UV colony-forming ability in 30 xeroderma pigmentosum fibroblast strains is quantitatively correlated with a decrease in DNA-incising capacity. J Cancer Res Clin Oncol 1985; 109:227–240.

    Article  PubMed  CAS  Google Scholar 

  8. Kraemer KH. Heritable diseases with increased sensitivity to cellular injury. In: Fatzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF, eds. Dermatology in General Medicine, 4th ed. New York: McGraw-Hill, 1993:1974.

    Google Scholar 

  9. Takebe H, Nishigori C and Satoh Y. Genetics and skin cancer of xeroderma pigmentosum in Japan. Jpn J Cancer Res (Gann) 1987; 78:1135–1143.

    CAS  Google Scholar 

  10. Jung EG. Xeroderma Pigmentosum. Int J Dermatol 1986; 25:629–633.

    Article  PubMed  CAS  Google Scholar 

  11. Hashem N, Bootsma D, Keijzer W et al. Clinical characteristics, DNA repair and complementation groups in xeroderma pigmentosa patients from Egypt. Cancer Res 1980; 40:13–18.

    PubMed  CAS  Google Scholar 

  12. Fischer E, Thielmann HW, Neundorfer B at al. Xeroderma pigmentosum patients from Germany: Clinical symptoms and DNA repair characteristics. Arch Dermatol Res 1982; 274:229–247.

    Article  PubMed  CAS  Google Scholar 

  13. Pawsey SA, Magnus LA, Ramsay CA. Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum. Qurat J Med 1979; 190:179–210.

    Google Scholar 

  14. Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol 1985; 3:33–69.

    Article  PubMed  CAS  Google Scholar 

  15. Hwang SW, Yoo YE, Kim YP. The genetics and clinical studies of xeroderma pigmentosum. Korean J Dermatol 1982; 20:879–884.

    Google Scholar 

  16. Park SD, Chung HY. Characterization of a Korean xeroderma pigmentosum cell strain, XP1SE, by somatic cell hybridization and complementation studies. Korean J Genetic 1982; 4:69–78.

    CAS  Google Scholar 

  17. Jiang Z, Hu Y, Chen Q et al. Study of DNA repair enzyme system. 1. Ultraviolet induced H-TdR unscheduled incorporation in xeroderma pigmentosum lymphocytes. Acta Genet. Sin 1981; 8:310–315.

    Google Scholar 

  18. Goyal JL, Rao VA, Srinivasan R et al. Oculocutaneous manifestations in xeroderma pigmentosa. Br J Ophthalmol 1994; 78:295–297.

    Article  PubMed  CAS  Google Scholar 

  19. Bhutto AM, Shaikh A, Nonaka S. Incidence of xeroderma pigmentosum in Larkana, Pakistan. Br J Dermatol 2005; 152:545–551.

    Article  PubMed  CAS  Google Scholar 

  20. Bouadjar B, Ait-Belkacem F, Daya-Grosjean L et al. Xeroderma pigmentosum. A study in 40 Algerian patients. (Article in French) Ann Dermatol Venereol 1996; 123:303–306.

    PubMed  CAS  Google Scholar 

  21. Khatri ML, Shafi M, Mashina A. Xeroderma pigmentosum. A clinical study of 24 Libyan cases. J Am Acad Dermatol 1992; 26:75–78.

    Article  PubMed  CAS  Google Scholar 

  22. Moussaid L, Benchikhi H, Boukind EH et al. Cutaneous tumors during xeroderma pigmentosum in Morocco: study of 120 patients. Ann Dermatol Venereol 2004; 131:29–33.

    Article  PubMed  CAS  Google Scholar 

  23. Jacyk WK. Xeroderma pigmentosum in black Sounth Africans. Int J Dermatol 1999; 38:511–514.

    Article  PubMed  CAS  Google Scholar 

  24. Fazaa B, Zghal M, Bailly C et al. Melanoma in xeroderma pigmentosum: 12 cases. Ann Dermatol Venereol 2001; 128(4):503–506.

    PubMed  CAS  Google Scholar 

  25. Kato T, Akiba H, Seiji M et al. Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan. Arch Dermatol Res 1985; 277:1–7.

    Article  PubMed  CAS  Google Scholar 

  26. Kanda T, Oda M, Yonezawa M et al. H. Peripheral neuropathy in xeroderma pigmentosum. Brain 1990; 113:1025–1044.

    Article  PubMed  Google Scholar 

  27. Swift M, Chase C. Cancer in families with xeroderma pigmentosum. J Natl Cancer Inst 1979; 218:652–656.

    Google Scholar 

  28. Thompson LH. Nucleotide excision repair: Its relation to human disease. In: Nickoloff JA, Hoekstra M, eds. DNA Repair in Higher Eukaryotes. Totowa: Humana Press, 1998; Vol 2; 335–393.

    Google Scholar 

  29. Svoboda DL, Briley LP, Vos J-HM. Defective bypass replication of a leading strand cyclobutane thymine dimer in xeroderma pigmentosum variant cell extracts. Cancer Research 1998; 58:2445–2448.

    PubMed  CAS  Google Scholar 

  30. Cleaver JE, Kraemer KH. Xeroderma Pigmentosum and Cockayne Syndrome. In: The metabolic and molecular bases of inherited disease, 7th ed, edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill, 1995; Vol III, pp 4393–4419.

    Google Scholar 

  31. Kohyama J, Furushima W, Sugawara Y et al. Convulsive episodes in patients with group A xeroderma pigmentosum. Acta Neurol Scand 2005; 112(4):265–269.

    Article  PubMed  CAS  Google Scholar 

  32. Nishigori C, Moriwaki S, Takebe H et al. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan. Arch Dermatol 1994; 130:191–197.

    Article  PubMed  CAS  Google Scholar 

  33. Kore-eda S, Tanaka T, Moriwaki S et al. A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Arch Dermatol 1992; 128:971–974.

    Article  PubMed  CAS  Google Scholar 

  34. Tanioka M, Budiyant A, Ueda T et al. A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. J Invest Dermatol 2005; 125(2):244–2446.

    PubMed  CAS  Google Scholar 

  35. Scott RJ, Itin P, Kleijer WJ et al. Xeroderma pigmentosum-Cockayne sundrome complex in two patients: Absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol 1993; 29:883.

    Article  PubMed  CAS  Google Scholar 

  36. Weeda G, Evano E, Donker I et al. A mutation in the XPB/ERCC3 DNA repair transcripyion gene, associated with trichothiodystrophy. Am J Hum Genet 1997; 60:320.

    PubMed  CAS  Google Scholar 

  37. Thielmann HW, Popanda O, Edler L et al. Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany. Cancer Res 1991; 51:3456.

    PubMed  CAS  Google Scholar 

  38. Kondo S et al. Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F. Photodermatology 1989; 6:89.

    PubMed  CAS  Google Scholar 

  39. Vermeulen W, Stefanini M, Giliani S et al. Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res 1991; 255:201.

    PubMed  CAS  Google Scholar 

  40. Broughton BC, Thompson AF, Harcourt SA et al. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and cockayne syndrome. Am J Hum Genet 1995; 56:167–174.

    PubMed  CAS  Google Scholar 

  41. Yin J, Li J, Ma Y et al. The DNA repair gene ERCC2/XPD polymorphism Arg 156Arg (A22541C) and risk of lung cancer in a Chinese population. Cancer Lett 2005; 223(2):219–226.

    Article  PubMed  CAS  Google Scholar 

  42. Brewster AM, Alberg AJ, Strickland PT et al. XPD polymorphism and risk of subsequent cancer in individuals with nonmelanoma skin cancer. Cancer Epidemiol Biomarkers Prev 2004; 13(8):1271–1275.

    PubMed  CAS  Google Scholar 

  43. Yamamura K, Ichihashi M, Hiramoto T et al. Clinical and photobiological characteristics of xeroderma pigmentosum complementation group F: a review of cases from Japan. Br J Dermatol 1989; 121:471–480.

    Article  PubMed  CAS  Google Scholar 

  44. Jaspers NG, Raams A, Silengo MC et al. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet 2007; 80(3):457–466.

    Article  PubMed  CAS  Google Scholar 

  45. Arlett CF, Harcourt SA, Lehmann AR et al. Studies of a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation. Carcinogenesis 1980; 1:745.

    Article  PubMed  CAS  Google Scholar 

  46. Jaeken J et al. Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet. 1989; 83:339.

    Article  PubMed  CAS  Google Scholar 

  47. Moriwaki S, Stefanini M, Lehmann AR et al. DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells. J Dermatol Invest 1996; 107:647.

    Article  CAS  Google Scholar 

  48. Mamada A, Miura K, Tsunoda K et al. Xeroderma pigmentosum variant associated with multiple skin cancers and a lung cancer. Dermatology 1992; 184:177–181.

    Article  PubMed  CAS  Google Scholar 

  49. Somos S, Schneider I, Rasko I. Xeroderma pigmentosum variant or pigmented xerodermoid. Anticancer Res 1997; 17:753–756.

    PubMed  CAS  Google Scholar 

  50. Kraemer KH, Lee MM andrews AD et al. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 1994; 130:1018–1021.

    Article  PubMed  CAS  Google Scholar 

  51. de Sa BC, Rezze GG, Scramim AP et al. Cutaneous melanoma in childhood and adolescence: retrospective study of 32 patients. Melanoma Res 2004; 14(6):487–492.

    Article  PubMed  Google Scholar 

  52. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123:241–250.

    Article  PubMed  CAS  Google Scholar 

  53. Stiller CA. International variations in the incidence of childhood carcinomas. Cancer Epidemiol Biomarkers Prev 1994; 3(4):305–310.

    PubMed  CAS  Google Scholar 

  54. Varan A, Gokoz A, Akyuz C et al. Primary malignant skin tumors in children: etiology, treatment and prognosis. Pediatr Int 2005; 47(6):653–657.

    Article  PubMed  Google Scholar 

  55. Chidzonga MM. Lip cancer in Zimbabwe. Int J Oral Maxillofac Surg 2005; 34(2):149–151.

    PubMed  CAS  Google Scholar 

  56. Johnson MW, Skuta GL, Kincaid MC et al. Malignant Melanoma of the iris in xeroderma pigmentosum. Arch Ophthalmol 1989; 107:402–407.

    PubMed  CAS  Google Scholar 

  57. Weiss JM, Weiss NS, Ulrich CM et al. Nucleotide excision repair genotype and the incidence of endometrial cancer: effect of other risk factors on the association. Gynecol Oncol 2006; 103(3):891–896.

    Article  PubMed  CAS  Google Scholar 

  58. English JSC, Swerdlow AJ. The risk of malignant melanoma, internal malignancy and mortality in xeroderma pigmentosum patients. Br J Dermatol 1987; 117:457–461.

    Article  PubMed  CAS  Google Scholar 

  59. Pippard EC, Hall AJ, Barker DJ et al. Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain. Cancer Res 1988; 48(10):2929–2932.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, Chandka Medical College, Larkana, Pakistan

    Abdul Manan Bhutto

  2. School of Science and Technology, Nottingham Trent University, Nottingham, England

    Sandra H. Kirk

Authors
  1. Abdul Manan Bhutto
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sandra H. Kirk
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. School of Science and Technology, Nottingham Trent University, Nottingham, England

    Shamim I. Ahmad MSc, PhD

  2. Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan

    Fumio Hanaoka PhD

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Landes Bioscience and Springer Science+Business Media

About this chapter

Cite this chapter

Bhutto, A.M., Kirk, S.H. (2008). Population Distribution of Xeroderma Pigmentosum. In: Ahmad, S.I., Hanaoka, F. (eds) Molecular Mechanisms of Xeroderma Pigmentosum. Advances in Experimental Medicine and Biology, vol 637. Springer, New York, NY. https://doi.org/10.1007/978-0-387-09599-8_15

Download citation

Publish with us

Policies and ethics

Search

Navigation