Xeroderma pigmentosum with XPC gene mutation. A case report

Background

Xeroderma pigmentosum is an autosomal recessive gerodermatosis with an incidence of 1 to 4 in 1,000,000 live births. Its genetic condition is autosomal recessive. This disease is caused by mutations in the ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, DDB2, XPA and XPC genes, involved in the repair of damaged DNA, which is why it is characterized by an inability to repair lesions in the DNA strand, presenting mainly skin lesions in photo-exposed regions. A 9-year-old male patient, product of consanguinity and with a history of a mother carrier of xeroderma pigmentosum with ephelides-type skin lesions and café-au-lait spots predominantly on the face and upper extremities, is presented. Genetic result with mutation in the XPC gene and histopathological results of skin lesions compatible with squamous cell carcinoma, basal cell carcinoma and Bowen's disease. The importance of early diagnosis and treatment in this pathology with sun protection measures lies in prognostic improvement of the patient and increase in the years of survival.

Keywords: xeroderma pigmentosum.