Metze D, Hamm H, Schorat A, Luger T
Department of Dermatology, Ludwig Boltzmann Institute for Cellbiology and Immunobiology of the Skin, University of Münster, Germany.
J Cutan Pathol. 1996 Jun;23(3):211-22. doi: 10.1111/j.1600-0560.1996.tb01469.x.
Hailey-Hailey disease is a blistering genodermatosis that shows acantholytic dyskeratosis throughout the epidermis. The aim of our study was to investigate the involvement of adherens structures and cytofilaments in this particular type of acantholysis. Both lesional and non-lesional skin from 18 patients was studied histologically and ultrastructurally. Additionally, the samples were stained for desmosomes, adherens junctions, keratin filaments, actin filaments, and actin-associated proteins, and finally investigated with an electron and a confocal laser scanning microscope (CLSM), respectively. Acantholytic dyskeratosis was not only confined to lesions, but was also focally detectable in clinically unaffected skin. Despite disruption and internalization of the desmosomes, keratinocytes remained linked together by well-preserved adherens junctions. Staining for actin filaments with fluorochrome-labeled phalloidin showed a remarkable formation of actin stress fibers in these keratinocytes. Thus, incomplete acantholysis, as demonstrable in both lesional and non-lesional skin of Hailey-Hailey patients, may be due to a cohesive function of the adherens junction-actin system succeeding the dissolution of desmosomes. Most remarkably, none of the adnexal epithelia expressed the intrinsic defect of cell adhesion. This finding offers an explanation for the successful treatment of Hailey-Hailey disease by dermabrasion, which after complete removal of the involved epidermis results in reepithelialization from skin appendages.
黑利-黑利病是一种水疱性遗传性皮肤病，其整个表皮均表现为棘层松解性角化不良。我们研究的目的是调查黏附结构和细胞丝在这种特殊类型的棘层松解中的作用。对18例患者的皮损和非皮损皮肤进行了组织学和超微结构研究。此外，对样本进行桥粒、黏附连接、角蛋白丝、肌动蛋白丝和肌动蛋白相关蛋白染色，最后分别用电子显微镜和共聚焦激光扫描显微镜（CLSM）进行观察。棘层松解性角化不良不仅局限于皮损，在临床上未受累的皮肤中也可局灶性检测到。尽管桥粒遭到破坏并内化，但角质形成细胞仍通过保存完好的黏附连接连接在一起。用荧光素标记的鬼笔环肽对肌动蛋白丝进行染色显示，这些角质形成细胞中显著形成了肌动蛋白应力纤维。因此，黑利-黑利病患者的皮损和非皮损皮肤中均可见的不完全棘层松解，可能是由于桥粒溶解后黏附连接-肌动蛋白系统的黏附功能所致。最值得注意的是，附属器上皮均未表现出细胞黏附的内在缺陷。这一发现为通过磨皮术成功治疗黑利-黑利病提供了解释，磨皮术在完全去除受累表皮后可导致皮肤附属器重新上皮化。
