eMedicine Specialties > Dermatology > Photo-Related Diseases

Xeroderma Pigmentosum: Follow-up

Author: A Hafeez Diwan, MD, PhD, Associate Professor, Department of Pathology, University of Texas MD Anderson Cancer Center
Contributor Information and Disclosures

Updated: Oct 7, 2008

Follow-up

Further Outpatient Care

  • Patients should receive follow-up care every 3 months.
  • Follow-up care should be focused on educating the patient and the patient's parents about effective sun protection and early recognition of skin cancer.
  • Genetic counseling should be offered for families at risk. Antenatal diagnosis is possible by amniocentesis or chorionic villi sampling.

Complications

  • Multiple cutaneous neoplasms develop at a young age in persons with xeroderma pigmentosum. Death is usually caused by metastatic malignant melanoma or squamous cell carcinoma.
  • Patients with xeroderma pigmentosum are also susceptible to infection and, in some subtypes, neurologic complications.

Prognosis

  • Less than 40% of patients survive beyond age 20 years. Individuals with milder disease may survive beyond middle age.

Patient Education

  • Constant education of the patient is the most important objective in the management of xeroderma pigmentosum. The need for adequate solar protection cannot be overemphasized and should be reinforced at every visit.
    • Sunblocks should be used, even in winter months and during evening and early morning hours. The exposed surfaces of the skin should be shielded with protective, double-layered clothing and broad-brimmed hats. The eyes should be shielded with UV-absorbing sunglasses with side shields.
    • Even unlikely sources of illumination can prove hazardous and should be pointed out to patients; for example, fluorescent lights that emit radiation below 320 nm can be dangerous.
  • The Xeroderma Pigmentosum Society provides information for individuals who are affected, their families, and the public. It also provides peer support for patients and their families.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Marcelo Horenstein, MD, to the development and writing of this article. The authors and editors of eMedicine also gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.



More on Xeroderma Pigmentosum

Overview: Xeroderma Pigmentosum
Differential Diagnoses & Workup: Xeroderma Pigmentosum
Treatment & Medication: Xeroderma Pigmentosum
Follow-up: Xeroderma Pigmentosum
Multimedia: Xeroderma Pigmentosum
References
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References

  1. 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].

  2. Gratchev A, Strein P, Utikal J, Sergij G. Molecular genetics of Xeroderma pigmentosum variant. Exp Dermatol. Oct 2003;12(5):529-36. [Medline].

  3. Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst). Jul 1 2008;7(7):1155-67. [Medline].

  4. 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].

  5. 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].

  6. 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].

  7. Niedernhofer LJ. Tissue-specific accelerated aging in nucleotide excision repair deficiency. Mech Ageing Dev. Jul-Aug 2008;129(7-8):408-15. [Medline].

  8. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. Cafardi JA, Elmets CA. T4 endonuclease V: review and application to dermatology. Expert Opin Biol Ther. Jun 2008;8(6):829-38. [Medline].

  17. de Laat WL, Jaspers NG, Hoeijmakers JH. Molecular mechanism of nucleotide excision repair. Genes Dev. Apr 1 1999;13(7):768-85. [Medline].

  18. Elmets CA, Anderson CY. Sunscreens and photocarcinogenesis: an objective assessment. Photochem Photobiol. Apr 1996;63(4):435-40. [Medline].

  19. Subba Rao K. Mechanisms of disease: DNA repair defects and neurological disease. Nat Clin Pract Neurol. Mar 2007;3(3):162-72. [Medline].

  20. Sugasawa K. Xeroderma pigmentosum genes: functions inside and outside DNA repair. Carcinogenesis. Mar 2008;29(3):455-65. [Medline].

  21. 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].

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Further Reading

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Keywords

xeroderma pigmentosum, skin cancer, XP, photosensitivity, pigmentary changes, premature skin aging, malignant tumors, defective nucleotide excision repair, NER, defect in DNA repair, defective DNA repair

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Contributor Information and Disclosures

Author

A Hafeez Diwan, MD, PhD, Associate Professor, Department of Pathology, University of Texas MD Anderson Cancer Center
A Hafeez Diwan, MD, PhD is a member of the following medical societies: College of American Pathologists and Southern Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Craig A Elmets, MD, Director of Dermatology, Departments of Dermatology, Pathology, and Environmental Health Sciences; Professor, The Kirklin Clinic, University of Alabama at Birmingham
Craig A Elmets, MD is a member of the following medical societies: American Academy of Dermatology, American Association of Immunologists, American College of Physicians, American Federation for Medical Research, and Society for Investigative Dermatology
Disclosure: Palomar Medical Technologies Stock None; Merck Consulting fee Independent contractor; Tronox Consulting fee Independent contractor; Amgen Consulting fee Review panel membership; Astellas Consulting fee Review panel membership; Massachusetts Medical Society Salary Employment

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Jeffrey J Miller, MD, Associate Professor, Department of Dermatology, Penn State University, Milton S Hershey Medical Center
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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