Abstract Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder resulting from mutations in nucleotide excision repair. It is characterised by severe photosensitivity, cutaneous pigment changes, malignant tumour development, and occasionally progressive neurologic degeneration. The aim is to report three cases of XP with cutaneous malignancies with emphasis on the importance of prevention of malignant transformation in these patients. Three adults within their 3rd and 4th decades with XP were managed for cutaneous malignancies: two males and one female, two of whom were siblings. Two had fungating lesions on the forehead, and one had multiple scalp lesions. The histology in all the three patients revealed squamous cell carcinoma (SCC). All underwent wide local excision, followed by full and split thickness skin grafting to cover the defects, except the one that had transposition flap at a second surgery, and were co-managed with a dermatologist. Skin malignancies especially SCC and basal cell carcinoma are common in the facial regions of patients with XP. Adequate education of the patients on the importance of protection from the ultraviolet radiation radiations will prevent malignant transformation, and early presentation with appropriate treatment will improve prognosis.
Choji et al. (Thu,) studied this question.