Neurologic Manifestations of Xeroderma Pigmentosum Treatment & Management

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

Medical Care

  • Skin hypersensitivity and skin cancer should be treated by a dermatologist.[6]
  • Neurologic care is mostly supportive. Seizures can be treated like other complex partial seizures with secondary generalization. Spasticity is usually mild. If it interferes with mobility, baclofen or botulinum toxin (BOTOX®) injection may be beneficial.
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Consultations

Every patient with xeroderma pigmentosum needs to be monitored regularly by a dermatologist and ophthalmologist. Consultation with a geneticist may help to differentiate xeroderma pigmentosum from other related conditions, such as Cockayne syndrome and progeria.

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Activity

Patients must avoid the sun to protect their skin. If sun exposure cannot be entirely avoided, patients should wear long sleeves, use sunscreen with SPF 50, and wear dark glasses. Some families reverse their day/night cycle to eliminate sun exposure entirely.

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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

  1. Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. Nov 1 2011;6:70. [Medline]. [Full Text].

  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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