한국인 가족에 발생한 백색 해면상 모반 증례
(주)코리아스칼라
- 최초 등록일
- 2023.04.05
- 최종 저작일
- 2017.12
- 6페이지/ 어도비 PDF
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서지정보
ㆍ발행기관 : 대한구강악안면병리학회
ㆍ수록지정보 : 대한구강악안면병리학회지 / 41권 / 6호
ㆍ저자명 : 김학진, 양동현, 장향란, 김진, 최아진, 신경진, 허종기, 박광호
목차
Ⅰ. INTRODUCTION
Ⅱ. Methods
1. Description of patients
2. Genetic analysis
3. Immunohistochemical staining
Ⅲ. RESULTS
1. Immunohistochemical staining
Ⅳ. DISCUSSION
REFERENCES
영어 초록
White sponge nevus (WSN) is a rare autosomal dominant disorder characterised by rough thickening, fissure formation, and a whitish colour change in the oral mucosa. This disorder predominantly affects the nonkeratinized stratified squamous epithelium of the mucosa. We experienced a familial case of WSN (i.e., a mother and her two daughters) and performed keratin gene analysis and immunohistochemical staining. The results of a mutation analysis revealed the presence of a heterozygous missense mutation 344T to G in KRT13, predicting an amino acid change leucine (L) to arginine (R), in the 1A domain of the KRT13 polypeptide. Immunohistochemically, the loss of keratin 4 expression was found.
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