증례 : 비타민 K 의존성 응고 인자 결핍증과 동반된 열성 탄력섬유 가성황색종
분야
의약학 > 피부과학
저자
김지영 ( Jee Young Kim ) , 김지석 ( Ji Seok Kim ) , 계지원 ( Ji Won Gye ) , 남궁선 ( Sun Koong Nam ) , 박병철 ( Byung Cheol Park ) , 김명화 ( Myunghwa Kim ) , 홍승필 ( Seung Phil Hong )
발행기관
대한피부과학회
간행물정보
대한피부과학회지 2013년, 제51권 제2호, 131~134페이지(총4페이지)
파일형식
27728612.pdf [무료 PDF 뷰어 다운로드]
  • ※ 본 자료는 참고용 논문으로 수정 및 텍스트 복사가 되지 않습니다.
  • 구매가격
    1,000원
    적립금
    30원 (구매자료 3% 적립)
    이메일 발송  스크랩 하기
    자료 다운로드  네이버 로그인
    영문초록
    Pseudoxanthoma elasticum is a multiorgan disorder, characterized by ectopic mineralization of elastic fibers of skin, eyes, and cardiovascular system. The dermatologic manifestations include laxity of skin, as well as cutis laxa-like wrinkling especially on both axillae. The classic forms of pseudoxanthoma elasticum are due to mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, a presumed transmembrane transporter expressed primarily in the liver and the kidneys. Recent case reports of mutations of gamma-glutamyl carboxylase (GGCX) gene describe associations with vitamin K-dependent coagulation factor deficiency and pseudoxanthoma elasticum as well. A 23-year old woman presented with laxity on both axillae and trunk and a history of vitamin K-dependent coagulation factor deficiency, diagnosed 2 years ago. Fragmented and markedly degenerated elastic fibers with calcium deposition were identified on biopsy specimens. Herein, we report a case of autosomal recessive pseudoxanthoma elasticum combined with vitamin K-dependent coagulation factor deficiency. (Korean J Dermatol 2013;51(2):131∼134)
    사업자등록번호 220-87-87785 대표.신현웅 주소.서울시 서초구 방배로10길 18, 402호 대표전화.070-8809-9397
    개인정보책임자.박정아 통신판매업신고번호 제2017-서울서초-1765호 이메일 help@reportshop.co.kr
    copyright (c) 2009 happynlife. steel All reserved.