Xeroderma pigmentosum

Moriwaki S, Kanda F, Hayashi M, et al. Xeroderma pigmentosum clinical practice guidelines. J Dermatol. 2017 Oct;44(10):1087-96.Full text  Abstract

Leung AK, Barankin B, Lam JM, et al. Xeroderma pigmentosum: an updated review. Drugs Context. 2022;11:2022-2-5.Full text  Abstract

Walsh MF, Chang VY, Kohlmann WK, et al. Recommendations for childhood cancer screening and surveillance in DNA repair disorders. Clin Cancer Res. 2017 Jun 1;23(11):e23-31.Full text  Abstract

1. Rizza ERH, DiGiovanna JJ, Khan SG, et al. Xeroderma pigmentosum: a model for human premature aging. J Invest Dermatol. 2021 Apr;141(4s):976-84.Full text  Abstract

2. Moriwaki S, Kanda F, Hayashi M, et al. Xeroderma pigmentosum clinical practice guidelines. J Dermatol. 2017 Oct;44(10):1087-96.Full text  Abstract

3. Fassihi H. Spotlight on 'xeroderma pigmentosum'. Photochem Photobiol Sci. 2013 Jan;12(1):78-84.Full text  Abstract

4. Fassihi H, Sethi M, Fawcett H, et al. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45.Full text  Abstract

5. 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 May 3;7(5):744-50.Full text  Abstract

6. Bhutto AM, Kirk SH. Population distribution of xeroderma pigmentosum. In: Ahmad SI, Hanaoka F, eds. Molecular mechanisms of xeroderma pigmentosum. Advances in experimental medicine and biology. Vol 637. New York, NY: Springer; 2008.​

7. Leung AK, Barankin B, Lam JM, et al. Xeroderma pigmentosum: an updated review. Drugs Context. 2022;11:2022-2-5.Full text  Abstract

8. Zghal M, El-Fekih N, Fazaa B, et al. [Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases]. [in fre]. Tunis Med. 2005 Dec;83(12):760-3. Abstract

9. Moussaid L, Benchikhi H, Boukind EH, et al. [Cutaneous tumors during xeroderma pigmentosum in Morocco: study of 120 patients]. [in fre]. Ann Dermatol Venereol. 2004 Jan;131(1 pt 1):29-33. Abstract

10. Khatri ML, Bemghazil M, Shafi M, et al. Xeroderma pigmentosum in Libya. Int J Dermatol. 1999 Jul;38(7):520-4. Abstract

11. Bhutto AM, Shaikh A, Nonaka S. Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study. Br J Dermatol. 2005 Mar;152(3):545-51. Abstract

12. Giordano CN, Yew YW, Spivak G, et al. Understanding photodermatoses associated with defective DNA repair: syndromes with cancer predisposition. J Am Acad Dermatol. 2016 Nov;75(5):855-70. Abstract

13. Nishigori C, Nakano E, Masaki T, et al. Characteristics of xeroderma pigmentosum in Japan: lessons from two clinical surveys and measures for patient care. Photochem Photobiol. 2019 Jan;95(1):140-53.Full text  Abstract

14. DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol. 2012 Mar;132(3 pt 2):785-96.Full text  Abstract

15. Bowden NA, Beveridge NJ, Ashton KA, et al. Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure. Int J Mol Sci. 2015 Jul 14;16(7):15985-96.Full text  Abstract

16. Bootsma D, Hoeijmakers JH. The genetic basis of xeroderma pigmentosum. Ann Genet. 1991;34(3-4):143-50. Abstract

17. Lehmann AR, Kirk-Bell S, Arlett CF, et al. Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Natl Acad Sci U S A. 1975 Jan;72(1):219-23.Full text  Abstract

18. Masutani C, Kusumoto R, Yamada A, et al. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature. 1999 Jun 17;399(6737):700-4. Abstract

19. Lee CH, Wu SB, Hong CH, et al. Molecular mechanisms of UV-induced apoptosis and its effects on skin residential cells: the implication in UV-based phototherapy. Int J Mol Sci. 2013 Mar 20;14(3):6414-35.Full text  Abstract

20. Piccione M, Belloni Fortina A, Ferri G, et al. Xeroderma pigmentosum: general aspects and management. J Pers Med. 2021 Nov 4;11(11):1146.Full text  Abstract

21. Hayashi M. Oxidative stress in developmental brain disorders. Neuropathology. 2009 Feb;29(1):1-8.Full text  Abstract

22. Niedernhofer LJ, Bohr VA, Sander M, et al. Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients. Mech Ageing Dev. 2011 Jun-Jul;132(6-7):340-7. Abstract

23. Kraemer KH, DiGiovanna JJ, Tamura D. Xeroderma pigmentosum. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; June 20, 2003 [updated 2022 Mar 24].Full text  Abstract

24. Kraemer KH, DiGiovanna JJ, Peck GL. Chemoprevention of skin cancer in xeroderma pigmentosum. J Dermatol. 1992 Nov;19(11):715-8. Abstract

25. Bradford PT, Goldstein AM, Tamura D, et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet. 2011 Mar;48(3):168-76. Abstract

26. Nakano E, Masaki T, Kanda F, et al. The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale. Exp Dermatol. 2016 Aug;25 Suppl 3:28-33.Full text  Abstract

27. 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 Jul;120(7):1324-36. Abstract

28. Walsh MF, Chang VY, Kohlmann WK, et al. Recommendations for childhood cancer screening and surveillance in DNA repair disorders. Clin Cancer Res. 2017 Jun 1;23(11):e23-31.Full text  Abstract

29. Totonchy MB, Tamura D, Pantell MS, et al. Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. Brain. 2013 Jan;136(pt 1):194-208.Full text  Abstract

30. Shanbhag NM, Geschwind MD, DiGiovanna JJ, et al. Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. Neurol Genet. 2018 Jun;4(3):e240.Full text  Abstract

31. Plante J, Strat N, Snyder A, et al. Xeroderma pigmentosum presenting as a diffuse midline glioma in a patient with skin of color. JAAD Case Rep. 2021 Jul;13:141-3.Full text  Abstract

32. Kleijer WJ, van der Sterre ML, Garritsen VH, et al. Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk. Prenat Diagn. 2007 Dec;27(12):1133-7. Abstract

33. Wallace SE, Bean LJH. Educational materials - genetic testing: current approaches. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 2017 Mar 14 [updated 2020 Jun 18].Full text

34. Laugel V, Dalloz C, Tobias ES, et al. Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet. 2008 Sep;45(9):564-71. Abstract

35. Graham JM Jr, Anyane-Yeboa K, Raams A, et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet. 2001 Aug;69(2):291-300.Full text  Abstract

36. Ferri D, Orioli D, Botta E. Heterogeneity and overlaps in nucleotide excision repair disorders. Clin Genet. 2020 Jan;97(1):12-24. Abstract

37. Tamura D, DiGiovanna JJ, Khan SG, et al. Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients. Photodermatol Photoimmunol Photomed. 2014 Apr-Jun;30(2-3):146-52.Full text  Abstract

38. Latour I, Hernández-Martín A, Ged C, et al. Reversed actinic damage in two children with xeroderma pigmentosum treated with topical imiquimod. J Eur Acad Dermatol Venereol. 2018 Jul;32(7):e282-4. Abstract

39. Cai H, Yang QQ, Ma C, et al. Photodynamic therapy in the treatment of xeroderma pigmentosum: a case report. Photodiagnosis Photodyn Ther. 2020 Jun;30:101761. Abstract

40. Kraemer KH, DiGiovanna JJ, Moshell AN, et al. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med. 1988 Jun 23;318(25):1633-7. Abstract

41. Naik SM, Shenoy AM, Nanjundappa A, et al. Cutaneous malignancies in xeroderma pigmentosum: earlier management improves survival. Indian J Otolaryngol Head Neck Surg. 2013 Apr;65(2):162-7. Abstract

42. Nikolaev S, Yurchenko AA, Sarasin A. Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts. Orphanet J Rare Dis. 2022 Mar 4;17(1):104.Full text  Abstract