四种遗传性鱼鳞病临床表型和组织病理的比较研究

目的：比较四种鱼鳞病（寻常型鱼鳞病；X-连锁鱼鳞病；板层状鱼鳞病；大疱性鱼鳞病）临床表型和组织病理的差异。方法：对鱼鳞病患者进行临床表型分析、皮损组织病理和电镜检测。结果：1．寻常型鱼鳞病：浅褐色多角形鳞屑，组织病理角化过度伴局灶性角化不全，颗粒层变薄；电镜示透明角质颗粒数量减少且结构异常。2．X-连锁鱼鳞病：粗大深褐色鳞屑，组织病理中度角化过度，颗粒层正常或稍增厚。3．板层状鱼鳞病：粗大黑色板样鳞屑，组织病理致密板层状角化过度伴灶性角化不全，局灶颗粒层增厚，棘层不规则增生肥厚；电镜示角质包膜异常。4．大疱性鱼鳞病：棕色疣状鳞屑，组织病理致密角化过度，颗粒层显著增厚，颗粒层及棘层中上部细胞核周空泡改变。电镜可见异常角蛋白分布于基底层以上全部表皮，棘细胞松解，颗粒层细胞核周围有异常聚集的角蛋白丝。结论：四种鱼鳞病患者临床表型、组织病理和严重程度有明显差异。

Investigation of the clinical phenotype and histopathological correlations of four types ichthyosis in China

Objective:To analyze the possible correlations between genotype/phenotype and histopathological characteristics of four types ichthyosis. Methods:Biopsy samples were taken from typical lesions,histopathological examinations were done by light microscopy and further by transmission electron microscopy.Results:1.Ichthyosis vulgaris: clinically the skin lesions are characterized by a light brown polygon scale,the histopathological characteristics involved hyperkeratosis with focal parakeratosis,a thinning granular layer.In addition,keratohyalin granules,an ultrastructual landmark in the granular layer,are either absent or reduced in numbers and structurally abnormal.2.X-linked ichthyosis: clinically,the scale of this type ichthyosis was dark brown and thick.Histopathological characteristics of XLI showed that epidermis is hyperkeratosis and granular layer is normal or a little thick.3.Lamellar ichthyosis: the scale of this type ichthyosis is thick and black.Histopathological characteristics of LI are also hyperkeratosis and mild focal para-keratosis,and there is an increased granular layer and prickle cell layer.Under electron microscopy,an abnormal cornified cell envelope can be seen.4.Epidermolytic hyperkeratosis ichthyosis: the scales of this type ichthyosis are brown and verrucous.Histopathological characteristics involved dense hyperkeratosis and significant thickening of the stratum granulosum.Vaculation can be seen in the granular layer and prickle cell layer.Ultrastructurally,irregularly shaped,abnormal,clumped keratin filaments are seen in the keratinocytes of the upper spinous layer to the granular layer.Conclusion:The clinical and pathological features and the severity of different types of ichthyosis are obvious.