【摘要】 目的　研究显性营养不良型大疱性表皮松解症 (DDEB)家系的临床、遗传特点及其基底膜带 (BMZ)结构缺陷 ,并探讨DDEB亚型的发生机制。方法　采用间接免疫荧光 (IIF)和电镜研究 3位DDEB先证者皮损 ,并对其家系进行实地调查。结果　①符合常染色体显性遗传 ;②各家系平均发病年龄差异较大 ;③同一家系中有不同的DDEB亚型 ;④IIF用鼠抗人单克隆抗体LH7∶2检测Ⅶ型胶原 ,家系 1先证者BMZ处荧光较强 ,与正常对照无明显差异 ,家系 2、3先证者荧光明显弱于对照 ;⑤透射电镜示裂隙位于BMZ致密板下 ,锚原纤维数量减少、排列紊乱。结论　同一DDEB家系中 ,不同患者的表现度不同可能导致不同的DDEB亚型 ,IIF和电镜检测患者皮损有助于诊断。更多还原

【Abstract】 Objective To analyze clinical and hereditary characteristic of dominant dystrophic epidermolysis bullosa(DDEB) families and study on the structure deficiency of basement membrane zone(BMZ) of patients and discuss the pathogenesis of DDEB isoforms.Methods By analyzing their clinical and hereditary characteristics of three DDEB families collected and researching three probands with the technology of histopathology,indirect immunofluorescence(IIF) and transmission electron microscope (TEM).Results ①Three DDEB families are in line with autosomal dominant inheritance;②Onset ages of affected members in one family could be variant from birth to 70;③There were different DDEB isoforms in each family;④By indirect immunofluorescence using mouse anti-human monoclonal antibody LH 7:2,we discovered that fluorescence at BMZ of the proband skin sample in family 1 was strong, exhibiting similarity to normal control.Fluorescence at BMZ of probands in family 2 and 3 was obviously weak compared with that of normal control;⑤Transmission electron microscope revealed dermoepidermal separation below the lamina densa of the basement membrane and diffuse rudimentary anchoring fibrils.Conclusion We thought that different expressivity might result in distinct DDEB isoforms in different patients of identical family. The technology of IIF using mouse anti-human monoclonal antibody LH 7:2 and TEM can be helpful in diagnosing DDEB.更多还原