Peña-Penabad C, de Unamuno P, García Silva J, Ludeña M D, González Sarmiento R, Pérez-Arellano J L
Department of Dermatology, University Hospital, Salamanca, Spain.
Eur J Dermatol. 1999 Apr-May;9(3):197-201.
In some cases of lamellar ichthyosis, mutations in the epidermal transglutaminase gene and a reduction in the thickness of the cornified envelope have been documented. Involucrin is a major component of the cornified envelope and a substrate for epidermal transglutaminase. The aim of the present work was to analyse the expression of involucrin in lamellar ichthyosis. An ultrastructural study and/or immunohistochemical and biochemical techniques with anti-involucrin antibody were carried out on the epidermis of fifteen patients (12 families) suffering from lamellar ichthyosis. The effect of in vivo retinoid treatment on the involucrin epidermal expression was also investigated. Four cases with normal skin, seventeen cases of other ichthyoses and ten cases of psoriasis were used as controls. In all these cases of lamellar ichthyosis, a thin or absent cornified envelope, electron-dense granules inside corneocytes and a decrease of the epidermal involucrin expression were observed. In the patients receiving treatment with retinoids, western blot and ELISA revealed an increase in the involucrin expression. The decreased expression of involucrin in lamellar ichthyosis could contribute to the altered desquamation process accompanying the disease, since the clinical improvement associated with retinoid treatment is accompanied by an increase in the expression of involucrin.
在某些板层状鱼鳞病病例中，已证实存在表皮转谷氨酰胺酶基因突变以及角质包膜厚度降低的情况。兜甲蛋白是角质包膜的主要成分，也是表皮转谷氨酰胺酶的底物。本研究的目的是分析兜甲蛋白在板层状鱼鳞病中的表达情况。对15例（12个家系）板层状鱼鳞病患者的表皮进行了超微结构研究和/或使用抗兜甲蛋白抗体的免疫组织化学及生化技术检测。还研究了维甲酸体内治疗对兜甲蛋白表皮表达的影响。选取4例皮肤正常者、17例其他鱼鳞病患者和10例银屑病患者作为对照。在所有这些板层状鱼鳞病病例中，均观察到角质包膜变薄或缺失、角质形成细胞内有电子致密颗粒以及表皮兜甲蛋白表达减少。在接受维甲酸治疗的患者中，蛋白质印迹法和酶联免疫吸附测定显示兜甲蛋白表达增加。板层状鱼鳞病中兜甲蛋白表达的降低可能导致该病伴随的脱屑过程改变，因为维甲酸治疗带来的临床改善伴随着兜甲蛋白表达的增加。
