This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (15)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Adam Hessel, MD; Ronald J. Siegle, MD; David L. Mitchell, PhD; James E. Cleaver, PhD

Arch Dermatol. 1992;128(9):1233-1237.

Abstract
• Background.—
Xeroderma pigmentosum (XP) is a hereditary disorder characterized by recessive inheritance and elevated rates of skin carcinogenesis. There are seven complementation groups (A through G) for which the genetic defect results in a failure to repair DNA damage from UV light and sunlight; one group, the variant, fails to replicate UV-damaged DNA correctly. Patients in XP groups A, B, D, and G have associated neurologic problems, the most severe being known as the DeSanctis-Cacchione syndrome.

Observations.—
We describe a patient with XP from consanguineous parents who has severe multisystem involvement similar to that of the DeSanctis-Cacchione syndrome. Extensive laboratory investigation showed that cells from this patient exhibit DNA replication after irradiation with UV light that is characteristic of the XP variant. The cells also show normal sensitivity to UV light and normal excision repair, consistent with XP variant classification. The presence of the neurologic symptoms is quite unusual in an XP variant.

Conclusion.—
Our patient clearly fits into the XP variant category based on normal survival, caffeine toxic reaction, photoproduct excision and repair, and the deficient replication of UV-damaged DNA. This patient seems to be rare, however, among XP variants in displaying severe neurologic symptoms. Because of the consanguineous parents, the possibility that some of this patient's findings are from non—XP-related abnormalities must also be entertained. However, other consanguineous patients with XP variant, eg, XPIOCA, have been described who do not show neurologic abnormalities. In view of the difficulty of defining an XP group from clinical symptoms alone, we urge the term xeroderma pigmentosum variant be used only in the context of the laboratory studies of patients with XP that contain normal repair but deficient semiconservative replication of UV-damaged DNA.

(Arch Dermatol. 1992;128:1233-1237)

Author Affiliations
From the Division of Dermatology (Dr Hessel) and the Department of Otolaryngology (Dr Siegle), Ohio State University, Columbus; the University of Texas M. D. Anderson Cancer Center, Science Park/Research Division, Smithville (Dr Mitchell); and the Laboratory of Radiobiology and Environmental Health, University of California, San Francisco (Dr Cleaver).

Footnotes
Accepted for publication January 21, 1992.

Reprint requests to Laboratory of Radiobiology and Environmental Health, University of California, San Francisco, CA 94143-0750 (Dr Cleaver).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Increased Ultraviolet Sensitivity and Chromosomal Instability Related to P53 Function in the Xeroderma Pigmentosum Variant
Cleaver et al.
Cancer Res. 1999;59:1102-1108.
ABSTRACT | FULL TEXT  

Replication Fork Bypass of a Pyrimidine Dimer Blocking Leading Strand DNA Synthesis
Cordeiro-Stone et al.
J. Biol. Chem. 1997;272:13945-13954.
ABSTRACT | FULL TEXT  

Inaugural Article: Polymerase eta deficiency in the xeroderma pigmentosum variant uncovers an overlap between the S phase checkpoint and double-strand break repair
Limoli et al.
Proc. Natl. Acad. Sci. USA 2000;97:7939-7946.
ABSTRACT | FULL TEXT