DNA Repair and Skin Disease

  • E. G. Jung
  • Y. Satoh
  • M. H. El-Hefnawi
  • S. Kondo
  • M. Ichihashi
Conference paper


Along with replication and transcription, DNA repair should be considered as a normal cellular process. In addition to cellular differentiation, DNA repair may be affected by inborn errors and by exogenous effects as well. In terminally differentiating structures such as epidermis, an alteration of DNA repair entails decrease of activity or retardation of repair processes leading to cytotoxic, mutagenic and oncogenic events under exogenous hazards (such as UV, chemicals, X-ray etc.). Fibroblasts show the UV-induced defect like that in cultured keratinocytes (Kondo). Atrophy, dyspigmentation and tumors are the epidermal endpoints of these events whereas actinic elastosis appears on the dermal level. The heterogenous group of xeroderma pigmentosum (XP) is the best-known and most well-investigated model of a congenital defect of DNA repair and its devasting effects on the skin after UV irradiation. XP is observed in all continents and races. Nevertheless, there are regional differences between the nine subgroups of classical XP A-I and the variant type.


Epidermal Cell Xeroderma Pigmentosum Complementation Group Skin Neoplasm Skin Malignancy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Kondo S, Satoh Y, Kuroki T (1987) Defect in UV-induced, unscheduled DNA synthesis in cultured epidermal keratinocytes from xeroderma pigmentosum. Mutation Res 183:95–101.PubMedCrossRefGoogle Scholar
  2. Epstein JH, Fukuyama K, Reed WB, Epstein WL (1970) Defect in DNA synthesis in skin of patients with xeroderma pigmentosum in vivo. Science 168:1477–1478.PubMedCrossRefGoogle Scholar
  3. Jung EG, Bantle K (1972) Xeroderma pigmentosum and pigmented xerodermoid. Birth Defects 7:125–128.Google Scholar
  4. Robbins JH, Burk PG (1973) Relationship of DNA repair to carcinogenesis in xeroderma pigmentosum. Cancer Res 33:929–935.PubMedGoogle Scholar
  5. Robbins JH, Levis WR, Miller AE (1971) Xeroderma pigmentosum epidermal cells with normal UV-induced thymidine incorporation. J Invest Dermatol 59:402–408.CrossRefGoogle Scholar
  6. Takebe H, Tatsumi K, Satoh Y (1985) DNA repair and its possible involvement in the origin of multiple cancer. Jpn J Clin Oncol 15:299–305.PubMedGoogle Scholar
  7. 1.
    Kraemer KH (1985) Xeroderma pigmentosum. Clin Dermatol 3:33–69.PubMedCrossRefGoogle Scholar
  8. 2.
    de Weerd-Kastelein EA, Keijzer W, Bootsma D (1973) A third complementation group in xeroderma pigmentosum. Mutat Res 22:87–91.Google Scholar
  9. 3.
    Fujiwara Y, Matsumoto A, Ichiashi M, Satoh Y (1987) Heritable disorders of DNA repair: xeroderma pigmentosum and Fancoin’s anemia. In: Honigsmann H (ed) Current problems in dermatology. Karger, Basel, pp 182–198.Google Scholar
  10. 4.
    Fujiwara Y, Uehara Y, Ichihashi M, Nishioka K (1985) Xeroderma pigmentosum complementation group F: more assignments and repair characteristics. Photochem Photobiol 41:629–634.PubMedCrossRefGoogle Scholar
  11. 5.
    Andrews AD, Barrett SF, Robbins JH (1978) Xeroderma pigmentosum neurological abnormalities correlates with colony-forming ability after ultraviolet irradiation. Proc Natl Acad Sci USA 75:1984–1988.PubMedCrossRefGoogle Scholar
  12. 6.
    Fujiwara Y, Uehara Y, Ichihashi M, Yamamoto Y, Nishioka K (1985) Assignment of 2 patients with xeroderma pigmentosum to complementation group E. Mutat Res 145:55–61.PubMedCrossRefGoogle Scholar
  13. 7.
    Kawada A, Satoh Y, Fujiwara Y (1986) Xeroderma pigmentosum complementation group E: a case report. Photodermatology 3:233–238.PubMedGoogle Scholar
  14. 8.
    Jung EG, Bohnert E, Fischer E (1986) Heterogeneity of xeroderma pigmentosum (XP); variability and stability within and between the complementation groups C, D, E, I and variant. Photodermatol 3:125–132.PubMedGoogle Scholar
  15. 9.
    Ichihashi M, Fujiwara Y, Uehara Y, Matsumoto A (1985) a mild form of xeroderma pigmentosum assigend to complementation group C and its repair heterogeneity. J Invest Dermatol 85:284–287.PubMedCrossRefGoogle Scholar
  16. 10.
    Bootsma D (1979) DNA repair deficiencies in man. In: Okada S, Imamura M, Terashima T, Yamaguchi H (eds) Proceedings of the 6th International Congress on Radiation Research. Assoc Radiat Res, Tokyo, pp 372–475.Google Scholar
  17. 11.
    Ichihashi M, Yamamura K, Hiramoto T, Fujiwara Y, (in press) No apparent neurological defect in a xeroderma pigmentosum complementation group D patient. Arch Dermatol.Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1988

Authors and Affiliations

  • E. G. Jung
    • 1
  • Y. Satoh
    • 2
  • M. H. El-Hefnawi
    • 3
  • S. Kondo
    • 4
  • M. Ichihashi
    • 5
  1. 1.Department of Dermatology, Mannheim Medical SchoolUniversity of HeidelbergMannheimFR Germany
  2. 2.School of MedicineTokyo Medical and Dental UniversityTokyoJapan
  3. 3.Faculty of MedicineAir Shams UniversityCairoEgypt
  4. 4.Department of DermatologyTokyo Medical and Dental UniversityTokyoJapan
  5. 5.Department of DermatologyKobe University School of MedicineKobeJapan

Personalised recommendations