Koss-Harnes D, Jahnsen F L, Wiche G, Søyland E, Brandtzaeg P, Gedde-Dahl T
Department of Dermatology, Ullevål Hospital, Oslo, Norway.
Exp Dermatol. 1997 Feb;6(1):41-8. doi: 10.1111/j.1600-0625.1997.tb00144.x.
Epidermolysis bullosa (EB) is a heterogeneous group of genetic bullous skin diseases. The EB simplex group (EBS) is characterized by intraepidermal blistering. EBS-Ogna was first described as a separate entity based on clinical studies. Later genetic linkage of EBS-Ogna to the GPT locus for glutamate pyruvate transaminase (alanine transaminase) was detected and GPT was assigned to chromosome 8, then to the terminal long arm band 8q24. Plectin is an abundant and widespread cytoskeletal protein which has been proposed as a general crosslinking element of intermediate filaments. Human plectin has recently been cloned and in situ hybridized to chromosome 8q24. To examine whether plectin could be associated with EBS-Ogna we performed an immunohistochemical study with a panel of mAbs to rat plectin. Interestingly, 2 of these mAbs showed strong intracellular staining of the suprabasal and basal layer of the epidermis in all control samples, whereas no reactivity of the basal layer was found in the Ogna group. These results strongly suggest that plectin is involved in the pathogenesis of EBS-Ogna.
大疱性表皮松解症（EB）是一组遗传性大疱性皮肤病。单纯性EB组（EBS）的特征是表皮内水疱形成。EBS-Ogna最初是根据临床研究作为一个独立的实体被描述的。后来检测到EBS-Ogna与谷氨酸丙酮酸转氨酶（丙氨酸转氨酶）的GPT基因座存在遗传连锁，并且GPT被定位到8号染色体，然后定位到末端长臂8q24带。网蛋白是一种丰富且广泛存在的细胞骨架蛋白，被认为是中间丝的一种普遍交联元件。人网蛋白最近已被克隆并原位杂交到8号染色体q24区。为了研究网蛋白是否与EBS-Ogna有关，我们用一组抗大鼠网蛋白的单克隆抗体进行了免疫组织化学研究。有趣的是，在所有对照样本中，其中2种单克隆抗体在表皮的基底上层和基底层显示出强烈的细胞内染色，而在Ogna组中未发现基底层有反应性。这些结果强烈表明网蛋白参与了EBS-Ogna的发病机制。
