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2016 ; 10
(2
): 139-44
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Xeroderma Pigmentosum
#MMPMID26975629
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Head Neck Pathol
2016[Jun]; 10
(2
): 139-44
PMID26975629
show ga
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.
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