Xeroderma pigmentosum: Composite cutaneous malignancies A nightmare

Abstract

Xeroderma pigmentosum (XP), is an autosomal recessive genetic disorder of enzymes in which the ability to repair damage caused to DNA by UV light is deficient. As this disorder is commonly due to exposure to sunlight and requires protection from sunlight such patients with the disease are often commonly referred to as “children of the night”. In this disorder, the patients suffer from various cutaneous malignancies such as basal cell carcinomas (BCC), malignant melanoma (MM), and squamous cell carcinoma (SCC). It is a rare disorder with an incidence of 1:250,000 in the United States. This disease involves both sexes and all races, with a common occurrence in Japanese people. The disease is characterized by a mutation in nucleotide excision repair (NER) enzymes resulting in a reduction or elimination of NER which is required for repair of UV light induced deoxyribonucleic acid damage thus increasing susceptibility to cutaneous malignancies. These patients rarely survive beyond 20 years of age. This case reports a rare occurrence of three malignancies in a single tumor BCC, SCC, and the rarely occurring sebaceous carcinoma, which is not known to be associated with UV radiation exposure.