Xeroderma pigmentosum complicated by keratoacanthoma in a Kashmiri girl

Abstract

Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. It manifests clinically as intense cutaneous photosensitivity, acute burning under minimal sun exposure, erythema, xerosis, poikiloderma, actinic keratosis, lentigines, and development of malignant lesions like basal cell carcinoma, squamous cell carcinoma, and melanoma in sun-exposed areas. We hereby report a case of xeroderma pigmentosum complicated by keratoacanthoma in a 9-year-old ethnic Kashmiri girl who had history of photosensitivity, dry skin, and pigmentary changes from the age of 2 years.

Keywords

• Keratoacanthoma (KA)
• nucleotide excision repair (NER)
• ultraviolet radiation (UVR)
• xeroderma pigmentosum (XP)