Neurologic Manifestations of Xeroderma Pigmentosum Follow-up

  • Author: Peter Hedera, MD, PhD; Chief Editor: Amy Kao, MD   more...
 
Updated: Feb 6, 2012
 

Prognosis

  • Xeroderma pigmentosum is a progressive condition with a high incidence of cutaneous and inner organ tumors.
  • Progressive neurologic deterioration may occur.
  • The average life expectancy is reduced by 30 years, and neoplasms are usually the cause of death.
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Patient Education

  • Patients and caregivers should be educated concerning the nature of the disease, the photosensitivity, the high incidence of cancer, and the necessity to avoid UV exposure.
  • Discuss skin protection (see Activity).
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Contributor Information and Disclosures
Author

Peter Hedera, MD, PhD  Associate Professor, Department of Neurology, Vanderbilt University School of Medicine

Peter Hedera, MD, PhD is a member of the following medical societies: American Academy of Neurology, American College of Medical Genetics, and American Neurological Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Robert Stanley Rust Jr, MD, MA  Thomas E Worrell Jr Professor of Epileptology and Neurology, Co-Director of FE Dreifuss Child Neurology and Epilepsy Clinics, Director, Child Neurology, University of Virginia School of Medicine; Chair-Elect, Child Neurology Section, American Academy of Neurology

Robert Stanley Rust Jr, MD, MA is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Headache Society, American Neurological Association, Child Neurology Society, International Child Neurology Association, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

References

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  2. 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].

  3. Mimaki T, Itoh N, Abe J, et al. Neurological manifestations in xeroderma pigmentosum. Ann Neurol. Jul 1986;20(1):70-5. [Medline].

  4. Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, et al. Neurological symptoms and natural course of xeroderma pigmentosum. Brain. Aug 2008;131:1979-89. [Medline].

  5. Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, et al. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet. Mar 2007;80(3):457-66. [Medline].

  6. Larson DM, Cunningham BB. Photodynamic Therapy in a Teenage Girl with Xeroderma Pigmentosum Type C. Pediatr Dermatol. Jan 26 2012;[Medline].

  7. Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature. May 18 1968;218(5142):652-6. [Medline].

  8. De Sanctinis C, Cacchione A. L'idiozia xerodermica. Riv Sepr Freniatr. 1932;56:269-292.

  9. Hakamada S, Watanabe K, Sobue G, et al. Xeroderma pigmentosum: neurological, neurophysiological and morphological studies. Eur Neurol. 1982;21(2):69-76. [Medline].

  10. Hayashi M, Araki S, Kohyama J, et al. Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. Brain Dev. Jan 2005;27(1):34-8. [Medline].

  11. Johnson RT, Squires S. The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy. Mutat Res. Mar 1992;273(2):97-118. [Medline].

  12. Kohyama J, Furushima W, Sugawara Y, et al. Convulsive episodes in patients with group A xeroderma pigmentosum. Acta Neurol Scand. Oct 2005;112(4):265-9. [Medline].

  13. Lehmann AR. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie. Nov 2003;85(11):1101-11. [Medline].

  14. Mimaki T, Tagawa T, Tanaka J, et al. EEG and CT abnormalities in xeroderma pigmentosum. Acta Neurol Scand. Aug 1989;80(2):136-41. [Medline].

  15. Moriwaki S, Nishigori C, Imamura S, et al. A case of xeroderma pigmentosum complementation group F with neurological abnormalities. Br J Dermatol. Jan 1993;128(1):91-4. [Medline].

  16. Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet. Jan 1 1992;42(1):68-84. [Medline].

  17. Rapin I, Weidenheim K, Lindenbaum Y, et al. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J Child Neurol. Nov 2006;21(11):991-1006. [Medline].

  18. Robbins JH, Brumback RA, Mendiones M, et al. Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain. Jun 1991;114 ( Pt 3):1335-61. [Medline].

  19. Robbins JH, Brumback RA, Moshell AN. Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair. Eur Neurol. 1993;33(3):188-90. [Medline].

  20. Robbins JH, Kraemer KH, Lutzner MA, et al. Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med. Feb 1974;80(2):221-48. [Medline].

  21. Roytta M, Anttinen A. Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. Acta Neurol Scand. Feb 1986;73(2):191-9. [Medline].

  22. Weeda G, Ma LB, van Ham RC, et al. Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome. Nucleic Acids Res. Nov 25 1991;19(22):6301-8. [Medline].

  23. Weeda G, van Ham RC, Vermeulen W, et al. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Cell. Aug 24 1990;62(4):777-91. [Medline].

 
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Sunlight-induced dermatologic abnormalities in a patient with xeroderma pigmentosum.
Typical skin manifestation of xeroderma pigmentosum with numerous areas of hypopigmentation and freckles (ie, solar lentigines) with different intensities of pigmentation.
Axial T2-weighted MRI of the brain of a 47-year-old woman with xeroderma pigmentosum, complementary group D. She developed progressive ataxia and dementia at age 44 years. Note severe atrophy and normal signal from the white matter.
Coronal T1-weighted MRI image of the brain of a 47-year-old woman who developed progressive ataxia and dementia at age 44 and was found to have xeroderma pigmentosum, complementary group D (see image above). Severe diffuse atrophy involves the brain stem and cerebellum.
 
 
 
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