Xeroderma Pigmentosum: Multimedia

References

1. 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].

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

3. 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].

4. 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].

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

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

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

8. 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].

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13. 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].

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

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18. 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].

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20. 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].

21. 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].

Further Reading

Keywords

XP, De Sanctis-Cacchione syndrome, sensitivity to ultraviolet light, light sensitivity, skin cancer, abnormal skin pigmentation, Cockayne syndrome, CS

Contributor Information and Disclosures

Author

Peter Hedera, MD, Assistant Professor, Department of Neurology, Vanderbilt University
Peter Hedera, MD 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.

Medical Editor

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; 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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Neurology, Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
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.