지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2023.6
- 수록면
- 94 - 98 (5page)
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초록· 키워드
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Dystrophic epidermolysis bullosa caused by a mutation in the COL7A1 gene that encodes for type VII collagen is a rare inherited skin disorder characterized by mucocutaneous fragility, resulting in blisters and healing with scarring and milia. We report a case of a newborn with skin ulcerations and aplasia found on the anteromedial aspects of both lower extremities at birth. From three days after birth, he showed repeated blister formation on the wrist, ankle, and dorsal surface of the foot. He received conservative treatment including skin dressing. After discharge, additional tests were performed for a definite diagnosis. The expression of type VII collagen was markedly decreased in immunofluorescence mapping and a mutation in COL7A1 gene was identified by next-generation sequencing. He was diagnosed with a dominant dystrophic epidermolysis bullosa with aplasia cutis congenita.
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