Two Cases of Xeroderma Pigmentosum with Skin Cancer
다양한 악성 피부 종양이 발생한 색소성 건피증 2예
이, 중선; 강, 희영; 이, 은소; 김, 유찬
Korean journal of dermatology, 43(2):233-238, 2005
Korean journal of dermatology; 대한피부과학회지
Xeroderma pigmentosum is a rare autosomal recessive disease associated with sun sensitivity, photophobia, early onset of freckling, and subsequent neoplastic changes to sun-exposed areas. The repair of ultraviolet-induced DNA damage is impaired in xeroderma pigmentosum owing to mutations in genes that form part of a DNA-repair pathway. This is known as nucleotide excision repair, and which is because of the DNA-endonuclease deficiency that initiated the excision process. We report two cases of xeroderma pigmentosum with skin cancer: one is a 13-year-old female with basal cell carcinoma and squamous cell carcinoma, and the other is a 49-year-old male with basal cell carcinoma, squamous cell carcinoma, and malignant melanoma.
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