CAJ | 학술논문

大疱性表皮松解症是一组单基因遗传病,随着分子生物学研究的深入,2008年在传统分类的基础上对其分型进行修订和完善,依据电镜下水疱及裂隙发生的位置,分为单纯型大疱性表皮松解症、交界型大疱性表皮松解症、营养不良型表皮松解症及Kindler综合征4型,各型又包括较多亚型.目前该病尚无有效治疗方法,未来的研究方向主要为针对患者的基因诊断及患者家系的产前诊断,以降低发病率,提高人口质量.
대포성표피송해증시일조단기인유전병,수착분자생물학연구적심입,2008년재전통분류적기출상대기분형진행수정화완선,의거전경하수포급렬극발생적위치,분위단순형대포성표피송해증、교계형대포성표피송해증、영양불량형표피송해증급Kindler종합정4형,각형우포괄교다아형.목전해병상무유효치료방법,미래적연구방향주요위침대환자적기인진단급환자가계적산전진단,이강저발병솔,제고인구질량.
Epidermolysis bullosa is a rare monogenic dermatosis.The progress in molecular biology has contributed to the revision and perfection of classification of epidermolysis bullosa in 2008.According to the anatomic level of blisters and splits observed under an electron microscope,epidermolysis bullosa are redivided into four types as follows:epidermolysis bullosa simplex,junctional epidermolysis bullosa,dystrophic epidermolysis bullosa,and Kindler syndrome,and each of these types include various subtypes.Now no effective treatment is available for epidermolysis bullosa.Genetic diagnosis and prenatal diagnosis are expected to reduce the incidence rate of epidermolysis bullosa and improve health-related quality of life.