Xeroderma pigmentosum: A rare case report with review of literature

Abstract

Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder in which the ability to repair DNA damage caused by ultraviolet (UV) light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. As such, individuals with the disease are often colloquially referred to as ′Children of the Night′. Mutations in XP genes that regulate nucleotide excision repair, not only predispose persons with xeroderma pigmentosum to multiple malignancies, but also promote premature cutaneous and ocular ageing, and in some cases promote progressive neurodegenerative changes. There is a great involvement of many parts of the body, especially head and neck. The oral manifestations are mainly related to the occurrence of malignant tumors in the lips, tongue and buccal mucosa. This paper reports a rare case of XP in a 40-year-old female presenting with dermatological, oral and ophthalmological involvement.

Keywords

• Xeroderma pigmentosum
• Multiple malignancies
• NFP Kannci disease