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Ultrastructural Criteria for the Distinction of Different Types of Inherited Ichthyoses

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Book cover The Ichthyoses

Summary

Electron microscopic studies in different types of inherited ichthyoses have been used as a basis for classifying this large group of ‘inborn errors of keratin-ization’. Ultrastructural abnormalities of structural proteins such as kerato-hyalin and tonofilaments have been shown to be an intrinsic feature of some dominantly inherited types (keratohyalin defect in autosomal dominant ichthyosis vulgaris, disturbances of tonofibrillar distribution in bullous ichthyosiform erythroderma or ichthyosis hystrix type Curth-Macklin), whereas only quantitative deviations from the normal keratinization process occur in recessively transmitted types (X-linked recessive ichthyosis Wells-Kerr, lamellar ichthyosis). Ultrastructural criteria may thus well serve as parameters for diagnosis in doubtful cases. Moreover, the ichthyoses provide a suitable model system for an analysis of the keratinization process and of the mode of gene interaction during this sequence of differentiative steps of keratinizing cells.

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  1. I. Aniton-Lamprecht
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  1. Department of Medicine, Welsh National School of Medicine, Cardiff, UK

    R. Marks  & P. J. Dykes  & 

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Aniton-Lamprecht, I. (1978). Ultrastructural Criteria for the Distinction of Different Types of Inherited Ichthyoses. In: Marks, R., Dykes, P.J. (eds) The Ichthyoses. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-9851-9_10

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  • DOI: https://doi.org/10.1007/978-94-010-9851-9_10

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-9853-3

  • Online ISBN: 978-94-010-9851-9

  • eBook Packages: Springer Book Archive

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