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Two Cases of Xeroderma Pigmentosum with Skin Cancer

Other Title
다양한 악성 피부 종양이 발생한 색소성 건피증 2예
Authors
이, 중선  | 강, 희영  | 이, 은소  | 김, 유찬
Citation
Korean journal of dermatology, 43(2). : 233-238, 2005
Journal Title
Korean journal of dermatology
ISSN
0494-4739
Abstract
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.
Keywords

Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Dermatology
Ajou Authors
강, 희영  |  김, 유찬  |  이, 은소  |  이, 중선
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