Original Article
Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

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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.

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