A 31-year-old female developed extensive freckling with photophibia since age of 6 years. Her parents are cousins and she has 2 sisters and 2 brothers, one of her sisters also affected with XP.
Xeroderma pigmentosum is a heterogeneous group of autosomal recessive disorders, characterized by the defective repair of DNA after its damage by ultraviolet radiation. Clinically, it is characterized by multiple freckles and keratoses on exposed skin appear between the ages of 6 months and 2 years. Photosensitivity increases thereafter. Telangiectases, small angiomas and many tumours develop on light-damaged skin: these include basal cell carcinomas, squamous cell carcinomas, keratoacanthomas and malignant melanomas. Eye problems are common and include photophobia, conjunctivitis and ectropion.