Four Cases of Xeroderma Pigmentosum in a Pakistani Family

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder
resulting from the defective repair of DNA, damaged by exposure to ultraviolet
radiation. This case series is focused on a Pakistani family with 4 of its members
suffering from XP. An 11 year old girl belonging to this family presented to us
with substantial loss of vision in right eye, intolerance to light and mild pain for
the past 4 years. Her visual acuity was hand movement in the right eye and no
perception of light in the left. On examination multiple hypo- and hyper
pigmented areas of skin around the eyes were visible. Her signs and symptoms
together with positive family history helped us reach the diagnosis of XP.