Xeroderma Pigmentosum
- 최초 등록일
- 2018.07.08
- 최종 저작일
- 2018.01
- 17페이지/
MS 파워포인트
- 가격 1,000원
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목차
1. Introduction
2. Clinical feature
3. Diagnosis & differential diagnosis
4. Management
5. follow up
본문내용
Introduction
• Pathophysiology
- NER (nucleotide excision repair) defect -> deficient DNA repair (d/t UV radiation)
- XPA ~XPG genes play key roles in NER
- XP variant: no defect in NER, but in postreplication repair
• Characterized by
① photosensitivity
② pigmentary changes
③ premature skin aging
④ malignant tumor development
참고 자료
Kenneth H Kraemer, MD “Xeroderma Pigmentosum”
A Hafeez Diwan, MD, PhD “Xeroderma Pigmentosum”
Stephanie Christen-Zaech, MD “Unexpected occurrence of Xeroderma Pigmentosum in an uncle and nephew” Arch Dermatol.2009;145(11):1285-1291
Steffen emmert “Strict sun protection results in minimal skin changes in a patient with XP and a novel c.2009delGmutation in XPD(ERCC2)” Exp Dermatol.2009 January; 18(1): 64-68