Xeroderma pigmentosum with multiple skin carcinoma and a homogenous XPC mutation: A case report from China and literature review

Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by hypersensitivity to ultraviolet radiation and increased risk of skin cancer. Impaired DNA repair mechanisms are considered to be involved in the occurrence and development of this distinct disorder. We present the case of a 48-year-old Chinese woman with facial and chest tumors; these lesions had been rapidly growing over the past 6 months. Pathological biopsy and immunohistology indicated malignant melanoma in facial and chest tumors and squamous cell carcinoma in chest tumors. Using whole-exome sequencing, a site mutation c.2218_2220del (p.Glu)740del in the XPC gene was confirmed. To treat the infection and skin carcinoma, antibiotics and plastic surgery were employed. The identified XPC variant has not been previously reported in Chinese or global populations, expanding the mutational spectrum of this gene and providing valuable data for genetic counseling of affected families.