Xeroderma Pigmentosum Differential Diagnoses
- Author: A Hafeez Diwan, MD, PhD; Chief Editor: William D James, MD more...
English JS, Swerdlow AJ. The risk of malignant melanoma, internal malignancy and mortality in xeroderma pigmentosum patients. Br J Dermatol. Oct 1987;117(4):457-61. [Medline].
Warrick E, Garcia M, Chagnoleau C, Chevallier O, Bergoglio V, Sartori D, et al. Preclinical Corrective Gene Transfer in Xeroderma Pigmentosum Human Skin Stem Cells. Mol Ther. Nov 8 2011;[Medline].
Gratchev A, Strein P, Utikal J, Sergij G. Molecular genetics of Xeroderma pigmentosum variant. Exp Dermatol. Oct 2003;12(5):529-36. [Medline].
Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst). Jul 1 2008;7(7):1155-67. [Medline].
Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat. Oct 2008;29(10):1194-208. [Medline].
Fréchet M, Warrick E, Vioux C, Chevallier O, Spatz A, Benhamou S, et al. Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. Oncogene. Sep 4 2008;27(39):5223-32. [Medline].
Ito S, Kuraoka I, Chymkowitch P, Compe E, Takedachi A, Ishigami C, et al. XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Mol Cell. Apr 27 2007;26(2):231-43. [Medline].
Niedernhofer LJ. Tissue-specific accelerated aging in nucleotide excision repair deficiency. Mech Ageing Dev. Jul-Aug 2008;129(7-8):408-15. [Medline].
Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. Nov 1 2011;6:70. [Medline]. [Full Text].
Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol. Feb 1987;123(2):241-50. [Medline].
Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG. Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk. Prenat Diagn. Dec 2007;27(12):1133-7. [Medline].
Alapetite C, Benoit A, Moustacchi E, Sarasin A. The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy. J Invest Dermatol. Feb 1997;108(2):154-9. [Medline].
Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med. Jun 23 1988;318(25):1633-7. [Medline].
Giannotti B, Vanzi L, Difonzo EM, Pimpinelli N. The treatment of basal cell carcinomas in a patient with xeroderma pigmentosum with a combination of imiquimod 5% cream and oral acitretin. Clin Exp Dermatol. Nov 2003;28 Suppl 1:33-5. [Medline].
Yarosh DB, O'Connor A, Alas L, Potten C, Wolf P. Photoprotection by topical DNA repair enzymes: molecular correlates of clinical studies. Photochem Photobiol. Feb 1999;69(2):136-40. [Medline].
Yarosh D, Klein J, O'Connor A, Hawk J, Rafal E, Wolf P. Effect of topically applied T4 endonuclease V in liposomes on skin cancer in xeroderma pigmentosum: a randomised study. Xeroderma Pigmentosum Study Group. Lancet. Mar 24 2001;357(9260):926-9. [Medline].
Zahid S, Brownell I. Repairing DNA damage in xeroderma pigmentosum: T4N5 lotion and gene therapy. J Drugs Dermatol. Apr 2008;7(4):405-8. [Medline].
Cafardi JA, Elmets CA. T4 endonuclease V: review and application to dermatology. Expert Opin Biol Ther. Jun 2008;8(6):829-38. [Medline].
de Laat WL, Jaspers NG, Hoeijmakers JH. Molecular mechanism of nucleotide excision repair. Genes Dev. Apr 1 1999;13(7):768-85. [Medline].
Elmets CA, Anderson CY. Sunscreens and photocarcinogenesis: an objective assessment. Photochem Photobiol. Apr 1996;63(4):435-40. [Medline].
Schaffer JV, Orlow SJ. Radiation Therapy for High-Risk Squamous Cell Carcinomas in Patients with Xeroderma Pigmentosum: Report of Two Cases and Review of the Literature. Dermatology. Oct 21 2011;[Medline].
Subba Rao K. Mechanisms of disease: DNA repair defects and neurological disease. Nat Clin Pract Neurol. Mar 2007;3(3):162-72. [Medline].
Sugasawa K. Xeroderma pigmentosum genes: functions inside and outside DNA repair. Carcinogenesis. Mar 2008;29(3):455-65. [Medline].
Tanaka K, Sekiguchi M, Okada Y. Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus). Proc Natl Acad Sci U S A. Oct 1975;72(10):4071-5. [Medline].

