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Variant subtype of xeroderma pigmentosum diagnosed in a 63-year-old woman

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European Journal of Dermatology

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References

  1. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum: cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123: 241–50.

    Article  CAS  PubMed  Google Scholar 

  2. Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG. Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974; 80: 21–248.

    Article  Google Scholar 

  3. Kleijer WJ, Laugel V, Berneburg M, et al. Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 2008; 7: 744–50.

    Article  CAS  PubMed  Google Scholar 

  4. Khatri ML, Bemghazil M, Shafi M, Machina A. Xeroderma pigmentosum in Libya. Int J Dermatol 1999; 38: 520.

    Article  CAS  PubMed  Google Scholar 

  5. Zghal M, El-Fekih N, Fazaa B, et al. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases. Tunis Med 2005; 83: 760.

    PubMed  Google Scholar 

  6. Bhutto AM, Shaikh A, Nonaka S. Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study. Br J Dermatol 2005; 152: 545.

    Article  CAS  PubMed  Google Scholar 

  7. 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.

    Article  CAS  PubMed  Google Scholar 

  8. Hirai Y, Kodama Y, Moriwaki S-I, et al. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res 2006; 601: 171–8.

    Article  CAS  PubMed  Google Scholar 

  9. Jung EG. New form of molecular defect in xeroderma pigmentosum. Nature 1970; 228: 361–2.

    Article  CAS  PubMed  Google Scholar 

  10. Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. 1968. DNA Repair (Amst) 2004; 3: 183.

    CAS  PubMed  Google Scholar 

  11. Inui H, Oh KS, Nadem C, et al. Xeroderma pigmentosum variant patients from America, Europe, and Asia. J Invest Dermatol 2008; 128: 2055–68.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Lerner LK, Francisco G, Soltys DT, et al. Predominant role of DNA polymerase eta and p53-dependent translesion synthesis In the survival of ultraviolet-irradiated human cells. Nucleic Acids Res 2017; 45: 1270–80.

    Article  CAS  PubMed  Google Scholar 

  13. DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol 2012; 132: 785–96.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Masutani C, Kusumoto R, Yamada A, et al. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature 1999; 399: 700–4.

    Article  CAS  PubMed  Google Scholar 

  15. Bradford PT, Goldstein AM, Tamura D, et al. Cancer and neurologic degeneration in xeroderma pigmentosum: longterm follow-up characterises the role of DNA repair. J Med Genet 2011; 48: 168–76.

    Article  PubMed  Google Scholar 

  16. Hoeijmakers JHJ. DNA damage, aging, and cancer. N Engl J Med 2009; 361: 1475–85.

    Article  CAS  PubMed  Google Scholar 

  17. Lim R, Sethi M, Morley AMS. Ophthalmic manifestations of xeroderma pigmentosum: a perspective from the United Kingdom. Ophthalmology 2017; 124: 1652.

    Article  PubMed  Google Scholar 

  18. Alfawaz AM, Al-Hussain HM. Ocular manifestations of xeroderma pigmentosum at a tertiary eye care center in Saudi Arabia. Ophthalmic Plast Reconstr Surg 2011; 27: 401.

    Article  PubMed  Google Scholar 

  19. Brooks BP, Thompson AH, Bishop RJ, et al. Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology 2013; 120: 1324.

    Article  PubMed  Google Scholar 

  20. Anttinen A, Koulu L, Nikoskelainen E, et al. Neurological symptoms and natural course of xeroderma pigmentosum. Brain 2008; 131: 1979.

    Article  PubMed  Google Scholar 

  21. Goyal JL, Rao VA, Srinivasan R, Agrawal K. Oculocutaneous manifestations in xeroderma pigmentosa. Br J Ophthalmol 1994; 78: 295.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Armenta, Andrew M, et al. Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman. JAAD Case Rep 2018; 4: 1074–6.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Andrews AD, Barrett SF, Robbins JH. Xeroderma pigmentosum neurological abnormalities correlate with colonyforming ability after ultraviolet radiation. Proc Natl Acad Sci U S A 1978; 75: 1984–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Sarasin A, Quentin S, Droin N, et al. Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum. Blood 2019; 133: 2718.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Su J, Zhu Y, Dai B, et al. XPG Asp1104His polymorphism increases colorectal cancer risk especially in Asians. Am J Transl Res 2019; 11: 1020.

    CAS  PubMed  PubMed Central  Google Scholar 

  26. Wang L, Wang LL, Shang D, et al. Gene polymorphism of DNA repair gene X-ray repair cross complementing group 1 and xeroderma pigmentosum group D and environment interaction in non-small-cell lung cancer for Chinese nonsmoking female patients. Kaohsiung J Med Sci 2019; 35: 39.

    Article  CAS  PubMed  Google Scholar 

  27. DiGiovanna JJ, Patronas N, Katz D, Abangan D, Kraemer KH. Xeroderma pigmentosum: spinal cord astrocytoma with 9-year survival after radiation and isotretinoin therapy. J Cutan Med Surg 1998; 2: 153–8.

    Article  CAS  PubMed  Google Scholar 

  28. Butt FMA, Moshi JR, Owibingire S, Chindia ML. Xeroderma pigmentosum: a review and case series. J Craniomaxillofac Surg 2010; 38: 534–7.

    Article  PubMed  Google Scholar 

  29. Pintens S, Pierret L, Keymolen K, Gutermuth J K, De Raeve L. Xeroderma pigmentosum and leukaemia in two sisters. J Eur Acad Dermatol Venereol 2016; 30: e42–3.

    Article  CAS  PubMed  Google Scholar 

  30. Ben Rekaya, Mariem, et al. A founder large deletion mutation in Xeroderma pigmentosum-variant form in Tunisia: implication for molecular diagnosis and therapy. Biomed Res Int 2014; 2014: 256245.

    Google Scholar 

  31. Gratchev A, Strein P, Utikal J, Sergij G. Molecular genetics of Xeroderma pigmentosum variant. Exp Dermatology 2003; 12: 529–36.

    Article  CAS  Google Scholar 

  32. Rekaya MB, Messaoud O, Mebazaa A, et al. A novel POLH gene mutation in a Xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation. J Genet 2011; 90: 483–7.

    Article  PubMed  Google Scholar 

  33. Broughton BC, Cordonnier A, Kleijer WJ, et al. Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. Proc Natl Acad Sci U S A 2002; 99: 815–20.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Moriwaki S, Kraemer KH. Xeroderma pigmentosum — Bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed 2001; 17: 47–54.

    Article  CAS  PubMed  Google Scholar 

  35. Kraemer KH, DiGiovanna JJ. Xeroderma pigmentosum. In: Gene-Reviews, Adam MP, Ardinger HH, Pagon RA, et al (Eds). Seattle (WA): University of Washington, 1993.

    Google Scholar 

  36. Masaki T, Wang Y, DiGiovanna JJ, et al. High frequency of pTEN mutations in nevi and melanomas from xeroderma pigmentosum patients. Pigment Cell Melanoma Res 2014; 7: 454–64.

    Article  Google Scholar 

  37. Kraemer KH, DiGiovann JJ. Forty years of research on xeroderma pigmentosum at the US National Institutes of Health. Photochem Photobiol 2015; 91: 452–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Dupuy A, Sarasin A. DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease. Mutat Res 2015; 776: 2–8.

    Article  CAS  PubMed  Google Scholar 

  39. Yarosh D, Klein J, O’Connor A, et al. Effect of topically applied T4 endonuclease V in liposomes on skin cancer in xeroderma pigmentosum: a randomised study. Xeroderma Pigmentosum Study Group. Lancet 2001; 357: 926.

    Article  CAS  PubMed  Google Scholar 

  40. Warrick E, Garcia M, Chagnoleau C, et al. Preclinical corrective gene transfer in xeroderma pigmentosum human skin stem cells. Mol Ther 2012; 20: 798.

    Article  CAS  PubMed  Google Scholar 

  41. Dupuy A, Valton J, Leduc S, et al. Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™. PLoS One 2013; 8: e78678.

    Article  PubMed  PubMed Central  Google Scholar 

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Author information

Authors and Affiliations

  1. Dermatology Department, Cambridge University Hospitals, Addenbrookes Hospital, Cambridge, UK

    Neda Alband & Thomas Ha

  2. Haematology Department, Cambridge University Hospitals, Addenbrookes Hospital, Cambridge, UK

    Sonam Yethenpa

  3. Histopathology Department, Cambridge University Hospitals, Addenbrookes Hospital, Cambridge, UK

    Sarah Mcdonald

Authors
  1. Neda Alband
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  2. Sonam Yethenpa
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  3. Sarah Mcdonald
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  4. Thomas Ha
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Corresponding author

Correspondence to Neda Alband.

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Disclosures

Conflicts of interest: none. Patient consent: written consent obtained.

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Alband, N., Yethenpa, S., Mcdonald, S. et al. Variant subtype of xeroderma pigmentosum diagnosed in a 63-year-old woman. Eur J Dermatol 32, 558–560 (2022). https://doi.org/10.1684/ejd.2022.4347

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  • DOI: https://doi.org/10.1684/ejd.2022.4347

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