Three-year Disease-Free Remission in a Xeroderma Pigmentosum Patient after Adjuvant Anti-Pd-1 Therapy

Xeroderma pigmentosum (XP) is a rare, autosomal recessive genodermatosis characterized by photosensitivity, early-onset lentigines, premature skin aging, ocular abnormalities, and development of multiple actinic precanceroses and malignant skin tumours. Keratinocyte cancer in sun-exposed areas, including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) occurs most frequently, but patients also carry an enhanced risk for malignant melanomas. Furthermore, XP patients have an increased risk of developing visceral neoplasia, and certain XP variants may also lead to progressive neurological degeneration [1].