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Review
. 2016 Jun;10(2):139-44.
doi: 10.1007/s12105-016-0707-8. Epub 2016 Mar 14.

Xeroderma Pigmentosum

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Free PMC article
Review

Xeroderma Pigmentosum

Jennifer O Black. Head Neck Pathol. .
Free PMC article

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.

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

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