GENETICALLY INDUCED ABNORMALITIES OF EPIDERMAL DIFFERENTIATION AND ULTRASTRUCTURE IN ICHTHYOSES AND EPIDERMOLYSES - PATHOGENESIS, HETEROGENEITY, FETAL MANIFESTATION, AND PRENATAL-DIAGNOSIS
GENETICALLY INDUCED ABNORMALITIES OF EPIDERMAL DIFFERENTIATION AND ULTRASTRUCTURE IN ICHTHYOSES AND EPIDERMOLYSES - PATHOGENESIS, HETEROGENEITY, FETAL MANIFESTATION, AND PRENATAL-DIAGNOSIS
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DOI：
10.1111/1523-1747.ep12540961
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发表时间：
1983-01-01
影响因子：
6.5
通讯作者：
ANTONLAMPRECHT, I
中科院分区：
文献类型：
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作者：
ANTONLAMPRECHT, I
对遗传性鱼鳞病和表皮病的病理形态发生的比较超结构研究表明，这种异质性皮肤病可作为与发育过程（如角化）或功能系统（如真皮-表皮连接完整性）遗传相互作用的模型系统。从形态学的角度来看，最有趣的是鱼鳞病和大疱性表皮病组中的显性遗传性皮肤病，其中结构异常的主要结构缺陷涉及常染色体显性寻常型鱼鳞病中的透明角质蛋白、hystrix样鱼鳞病中的张力丝系统和显性营养不良性表皮病中的锚定原纤维。大疱性先天性鱼鳞病样红皮病作为一个中心的例子，我们讨论了这种结构缺陷的稳定性，在超微结构异常的异质性，如果临床上非常相似的实体（棘状鱼鳞病Curth-Macklin，先天性网状鱼鳞样红皮病），并且，在后一种角化病症中，在异常角质形成细胞中存在未知生物化学组成的不寻常细丝系统。突变基因在胎儿期的表达和这种异常的胎儿表现是遗传性皮肤病（大疱性鱼鳞病样红皮病、大疱性营养不良性表皮病、Hallopeau-Siemens综合征）产前诊断的先决条件。最后，突变的角质形成细胞和羊水细胞的遗传性皮肤病的风险胎儿的分化有关的问题进行了简要讨论。
Comparative ultrasructural investigations on the pathomorphogensis of inherited ichthyoses and epidermolyses have shown that such heterogeneous skin disorders may serve as model systems for genetic interactions with developmental processes, such as keratinization, or functional systems, such as dermal-epidermal junction integrity. Most interesting from the morphologic point of view are dominantly inherited skin disorders in the ichthyosis and epidermolysis bullosa groups in which primary structural defects of structural abnormalities concern keratohyalin in autosomal-dominant icthyosis vulgaris, the tonofilament system in hystrix-like ichthyoses, and the anchoring fibrils in dominant dystrophic epidermolyses. Taking bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) as a central example, we discuss the stability of such structural defects, the heterogeneity in the ultrastructural abnormalities if clinically closely similar entities (ichthyosis hystrix Curth-Macklin, congenital reticulate ichthysoform erythroderma), and, in the latter keratinization disorder, the presence of an unusual filament system of unknown biochemical composition in the abnormal keratinocytes. Expression of mutant genes during fetal life and fetal manifestation of such abnormalities are a precondition for the prenatal diagnosis of genetic skin disorders (bullosa ichthyosiform erythroderma, epidermolysis bullosa dystrophica Hallopeau-Siemens, Herlitz syndrome). Finally, problems related to the differentiation of mutant keratinocytes and of amniotic fluid cells of fetuses at risk of genetic skin disorders are briefly discussed.