Population distribution of xeroderma pigmentosum

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disease caused by defects in the normal repair of DNA of various cutaneous and ocular cell types damaged by exposure to sunlight.1-3 Hebra and Kaposi reported the disease initially in 1874.4 It generally shows early onset of symptoms, hence mostly affecting children and is characterized by cutaneous and ocular pigmentary changes such as freckles, photophobia, conjunctivitis, corneal keratitis and ulcers. If the disease is not controlled at this level, there is a risk of developing malignancy in the future, the major cause of death amongst patients. © 2009 Springer New York.