Egelrud T, Vahlquist A
Hudkliniken, Norrlands Universitetssjukhus, Umeå.
Lakartidningen. 2000 Oct 18;97(42):4722-6.
The skin barrier is composed of a thin horny layer, which prevents water loss and intrusion of noxious factors, and a thicker, viable layer of epidermis, which is strongly attached to the underlying dermis. Serious impairment of the skin barrier may result from genetic diseases interfering with the attachment and/or terminal differentiation of keratinocytes. In epidermolysis bullosa, defects in the anchoring proteins of epidermis cause neonatal blistering and a life-long problem with widespread skin erosions. In congenital ichthyosis, various enzyme deficiencies (transglutaminase 1, steroid sulfatase, etc) or mutations in structural proteins (cytokeratins, plakophilin, etc) cause massive hyperkeratosis and/or inflammation resulting in chronic problems with the skin barrier. Our increasing knowledge of the etiology of these diseases has already facilitated diagnosis and genetic counseling. Hopefully this knowledge will also pave the way for new remedies, including cutaneous gene therapy for the most severe conditions.
皮肤屏障由一层薄的角质层和一层较厚的、有活力的表皮层组成，角质层可防止水分流失和有害因素的侵入，表皮层则牢固地附着于其下方的真皮层。皮肤屏障的严重受损可能源于干扰角质形成细胞附着和/或终末分化的遗传疾病。在大疱性表皮松解症中，表皮锚定蛋白的缺陷会导致新生儿水疱形成以及广泛皮肤糜烂的终身问题。在先天性鱼鳞病中，各种酶缺乏（转谷氨酰胺酶1、类固醇硫酸酯酶等）或结构蛋白（细胞角蛋白、桥粒斑蛋白等）突变会导致大量角化过度和/或炎症，从而引发皮肤屏障的慢性问题。我们对这些疾病病因的了解不断增加，这已经有助于诊断和遗传咨询。有望这一知识也将为新的治疗方法铺平道路，包括针对最严重病症的皮肤基因治疗。
