Xeroderma Pigmentosum with Malignant Transformation in a 2-Year-Old Boy

Abstract

Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by photo sensitivity and increased propensity for development of skin malignancies in affected individuals. We report a 2year 6months old boy who was diagnosed with XP with unusual malignant transformation of his facial ulcers into squamous cell carcinoma (SCC) at such a young age. He received 3 courses of chemotherapy comprising of cisplatin, cyclophosphamide and adriamycin at 3weekly intervals with remarkable clinical improvement. The boy’s two older female siblings were also diagnosed with XP and their biological parents are first cousins. This case emphasizes the role of consanguinity in disease transmission and the effectiveness of multidisciplinary team management in patient care for optimal outcome.