Skip to main content
SpringerLink
Log in

Clinical and biological studies of 26 cases of xeroderma pigmentosum in Northeast District of Japan

  • Original Contributions
  • Published:
Archives of Dermatological Research Aims and scope Submit manuscript

Summary

Twenty-six patients with xeroderma pigmentosum (XP), who live in the Northeast (Tohoku) District of Japan, were examined for the clinical characteristics of UV-induced DNA synthesis (unscheduled DNA synthesis, UDS) and UV sensitivity of skin fibroblasts or lymphoblastoid cells, or both. A history of consanguineous marriage within two generations was found in 19 of 26 cases (73%). Two pairs of siblings showed similar manifestations and almost the same levels of UDS and of UV sensitivity. Squamous cell carcinoma, basal cell carcinoma, or both were observed on the exposed skin in 14 patients, but no malignant melanoma was found. Cancer had developed in approximately 71% (10/14) of the cancer-bearing patients by the age of 20, and 8 of them belonged to the UDS-deficient group. Neurological manifestations were associated with nine patients, including 3 with typical de Sanctis-Cacchione syndrome (DSC), and most of the cells derived from these patients had a UDS level less than 10% of that of the normal cells. A clear correlation between the levels of UDS and UV sensitivity, on the one hand, and the severity of clinical manifestations on the other could not be detected, but it seems that the UDS-deficient group is generally much more sensitive to UV in terms of cell killing and the induction of sister chromatid exchange (SCE) than the UDS-proficient group. After a photosensitivity test, one patient with mild skin manifestations showed distinct skin tanning without preceding erythema.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Akiba H, Kato T, Nakano H, Seiji M (1975) Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV irradiation. Tohoku J Exp Med 117:1–13

    PubMed  Google Scholar 

  2. Akiba H, Kato T, Seiji M (1976) Enzyme defect in xeroderma pigmentosum. J Dermatol 3:163–170

    Google Scholar 

  3. Arase S, Kozuka T, Tanaka K, Ikenaga M, Takebe H (1979) A sixth complementation group in xeroderma pigmentosum. Mutat Res 59:143–146

    PubMed  Google Scholar 

  4. Bootsma D, Mulder MP, Pot F, Cohen JA (1970) Different inherited level of DNA repair replication in xeroderma pigmentosum cell strain after exposure to ultraviolet irradiation. Mutat Res 9:507–516

    PubMed  Google Scholar 

  5. Cleaver JE (1968) Defective repair replication of DNA in xeroderma pigmentosum. Nature 218:652–656

    PubMed  Google Scholar 

  6. Cleaver JE (1972) Xeroderma pigmentosum. Variants with normal DNA repair and normal sensitivity to ultraviolet light. J Invest Dermatol 58:124–128

    Article  PubMed  Google Scholar 

  7. Cleaver JE, Thomas GH, Park SD (1979) Xeroderma pigmentosum variants have a slow recovery of DNA synthesis after irradiation with ultraviolet light. Biochim Biophys Acta 564:122–131

    PubMed  Google Scholar 

  8. Cripps DJ, Ramsey CA, Ruch DM (1971) Xeroderma pigmentosum. Abnormal monochromatic action spectrum and autoradiographic studies. J Invest Dermatol 56:281–286

    Article  PubMed  Google Scholar 

  9. De Weerd-Kastelein EA, Keijzer W, Rainaldi G, Bootsma D (1977) Induction of sister chromatid exchanges in xeroderma pigmentosum cells after exposure to ultraviolet light. Mutat Res 45:253–261

    PubMed  Google Scholar 

  10. Epstein JH (1974) Xeroderma pigmentosum and UVL carcinigenesis. Pathak M, Haber SC, Seiji M, Kukita A (eds) Sunlight and man. University Tokyo Press, Toyko, pp 299–315

    Google Scholar 

  11. Fischer E, Thielmann HW, Neundorfer B, Rentsch FJ, Edler L, Jung EG (1982) Xeroderma pigmentosum patients from Germany: clinical syymptoms and DNA repair characteristics. Arch Dermatol Res 274:229–247

    PubMed  Google Scholar 

  12. Fujiwara Y, Satoh Y (1981) Age-dependent changes in fibroblast cultures from a xeroderma pigmentosum variant. J Invest Dermatol 76:215–220

    Article  PubMed  Google Scholar 

  13. Goldstein S, Linn CC (1972) Survival and DNA repair of somatic cell hybrids after ultraviolet irradiation. Nature (New Biol) 239:142–145

    Google Scholar 

  14. Horiko T, Kushimoto H, Akimoto T, Fujita M, Aoki T, Kozuka T, Sato K, Ikenaga M (1983) Minimum erythema dose of group A xeroderma pigmentosum patients and their protecton from sunlight. Skin Res (Japanese) 25:222–229

    Google Scholar 

  15. Ichihashi M, Fujiwara Y (1981) Clinical and photobiological characteristics of Japanese xeroderma pigmentosum variant. Br J Dermatol 105:1–12

    Google Scholar 

  16. Jung EG (1970) Das pigmentierte Xerodermoid. Arch Dermatol Res 241:33–43

    Google Scholar 

  17. Keijzer W, Jaspers NGJ, Abrahams PJ, Taylor AMR, Arlett CF, Zelle B, Takebe H, Kinmont PDS, Bootsma D (1979) A seventh complementation group in excision-deficient xeroderma pigmentosum. Mutat Res 62:183–190

    PubMed  Google Scholar 

  18. Kobayashi M, Satoh Y, Irimajiri T, Mitoh Y, Kozuka T, Ichihashi M, Nakanishi T (1982) Skin tumors of xeroderma pigmentosum (I). J Dermatol (Tokyo) 9:319–322

    Google Scholar 

  19. Kraemer KH, De Weerd-Kastelein EA, Robbins JH, Keijzer W, Barrett SF, Patinga RA, Bootsma D (1975) Five complementation groups in xeroderma pigmentosum. Mutat Res 33:327–340

    PubMed  Google Scholar 

  20. Lehman AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PHM, De Weerd-Kastelein EA, Bootsma D (1975) Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV irradiation. Proc Natl Acad Sci USA 72:219–223

    PubMed  Google Scholar 

  21. Ramsey CA, Gianelli F (1975) The erythemal action spectrum and deoxyribonucleic acid repair synthesis in xeroderma pigmentosum. Br J Dermatol 91:49–56

    Google Scholar 

  22. Reed WB, May SB, Nickel WR (1965) Xeroderma pigmentosum with neurological complications. The de Sanctis Cacchione syndrome. Arch Dermatol 91:224–226

    Article  PubMed  Google Scholar 

  23. Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG (1974) Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasma, and abnormal DNA repair. Ann Intern Med 80:221–248

    PubMed  Google Scholar 

  24. Satoh Y, Irimajiri T, Mitoh Y, Takeuchi T (1977) Photosensitivity and photoprotection in the patients with xeroderma pigmentosum. Nippon Hifuka Gakkai Zasshi (Japanese) 87:728–731

    Google Scholar 

  25. Takebe H, Miki Y, Kozuka T, Furuyama J, Tanaka K, Sasaki MS, Fujiwara Y, Akiba H (1977) DNA repair characteristics and skin cancer of xeroderma pigmentosum patients in Japan. Cancer Res 37:490–495

    PubMed  Google Scholar 

  26. Takebe H, Fujiwara Y, Sasaki MS, Satoh Y, Kozuka T, Nikaido O, Ishizaki K, Arase S, Ikenaga M (1978) DNA repair and clinical characteristics of 96 xeroderma pigmentosum patients in Japan. In: Hanawalt PC, Friedberg EC, Fox CF (eds) DNA repair mechanisms. Academic Press, New York, pp 617–620

    Google Scholar 

  27. Takebe H (1979) Xeroderma pigmentosum. DNA repair defects and skin cancer. Gann Monogr Cancer Res 24:103–117

    Google Scholar 

  28. Thoda H, Oikawa A (1983) Differential features of sister chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines. Mutat Res 107:387–396

    PubMed  Google Scholar 

  29. Tohda H, Oikawa A, Katsuki T, Hinuma Y, Seiji M (1978) A convenient method of establishing permanent cell lines of xeroderma pigmentosum cells. Cancer Res 38:253–256

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, Tohoku University School of Medicine, Seiryo-machi 1-1, 980, Sendai, Japan

    T. Kato, H. Akiba & M. Seiji

  2. Department of Pharmacology, Research Institute for Tuberculosis and Cancer, Tohoku University, Seiryo-machi 4-1, 980, Sendai, Japan

    H. Tohda & A. Oikawa

Authors
  1. T. Kato
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. H. Akiba
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. Seiji
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. H. Tohda
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A. Oikawa
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

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 277, 1–7 (1984). https://doi.org/10.1007/BF00406472

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00406472

Key words

Search

Navigation