Article
Xeroderma pigmentosum with multiple skin carcinoma and a homogenous XPC mutation: A case report from China and literature review.
The Journal of international medical research - 1 Jan 2026
Gao Feng, Huang Ruiye, Lu Yang, Guo Ziyu, Li Min, Wu Weiwei, Li Wen
Abstract excerpt
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...
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