Oculocutaneous manifestations of Xeroderma pigmentosum in children: A prospective case series

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a gene defect, leading to deficient deoxyribonucleic acid repair. The sun-exposed areas of the body predominantly skin, eyelid, and ocular surface are greatly affected by ultraviolet radiation. In this case series, we report eight children with XP seen over a period of 5 years. All these cases had complaints of photophobia and early lentiginosis in sun-exposed area. Clinical presentation varied from lid freckles, conjunctival hyperemia, conjunctival melanosis, corneal opacity with vascularization, actinic keratosis to skin malignancy. One child with squamous cell carcinoma of the neck died at the age of 5 years. This case series describes the oculocutaneous manifestations seen in Indian children with XP. It also highlights the significance of regular multidisciplinary health check-up to prevent life-threatening complications in these patients.

Keywords

• conjunctival melanosis
• cutaneous malignancies
• eye lid freckles
• photophobia
• ultraviolet radiation