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Cover page of the Journal of Health Sciences
CASE REPORT
Year : 2021  |  Volume : 14  |  Issue : 3  |  Page : 380-383

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


1 Department of Ophthalmology, IMS and SUM Hospital, Bhubaneswar, Odisha, India
2 Department of Dermatology, IMS and SUM Hospital, Bhubaneswar, Odisha, India

Correspondence Address:
Dr. Jasmita Satapathy
Department of Ophthalmology, IMS and SUM Hospital, Bhubaneswar - 751 003, Odisha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kleuhsj.kleuhsj_24_21

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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.


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