Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Jun;10(2):139-44.
doi: 10.1007/s12105-016-0707-8. Epub 2016 Mar 14.

Xeroderma Pigmentosum

Jennifer O Black  1
Affiliations
Review

Xeroderma Pigmentosum

Jennifer O Black. Head Neck Pathol. 2016 Jun.

Abstract

Xeroderma pigmentosum (XP) is a rare disorder of defective UV-radiation induced damage repair that is characterized by photosensitivity with easy skin burning following minimal sun exposure, early freckling and development of lentiginous pigmentation along with other features of poikiloderma and a propensity for developing skin cancer at an early age. In this short review, the clinical, pathological, genetic and molecular aspects of XP are reviewed in the current literature. XP encompasses a spectrum of disease that overlaps with other diseases of DNA repair systems. In addition to cutaneous complications, patients are susceptible to eye conditions, neurodegenerative processes, central nervous system tumors and other tumors as a result of UV radiation exposure and its byproducts. Patients with XP frequently experience a shorter life span due to skin cancer and neurodegenerative sequelae, but aggressive preventative measures to minimize UV radiation exposure and damage can improve the course of disease and prolong life. The disease has served as a model for photoaging and UV radiation-induced cancer and has led to a better understanding of cell processes that prevent development of these disease features in normal individuals.

Keywords: Nucleotide excision repair pathway; UV radiation; Xeroderma pigmentosum.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
A young girl with xeroderma pigmentosum
Fig. 2
Fig. 2
The hands of a 21-year-old woman with xeroderma pigmentosum
See this image and copyright information in PMC

References

    1. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum: Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol. 1987;123:241–250. doi: 10.1001/archderm.1987.01660260111026. - DOI - PubMed
    1. Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. 2011;6:70–145. doi: 10.1186/1750-1172-6-70. - DOI - PMC - PubMed
    1. Robbins JH, Kraemer KH, Lutzner MA, et al. Xeroderma pigmentosum: An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med. 1974;80:221–248. doi: 10.7326/0003-4819-80-2-221. - DOI - PubMed
    1. Kleijer WJ, Laugel V, Berneburg M. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst) 2008;7:744–750. doi: 10.1016/j.dnarep.2008.01.014. - DOI - PubMed
    1. Hebra F, Kaposi M. On diseases of the skin including exanthemata, volume III. New Sydenham Soc. 1874;61:252–258.

MeSH terms