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American Journal of Clinical Dermatology

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Open Access 01-02-2018 | Review Article

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

Authors: Anders Vahlquist, Judith Fischer, Hans Törmä

Published in: American Journal of Clinical Dermatology | Issue 1/2018

Abstract

Hereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly expressed in the upper epidermis. Syndromic as well as nonsyndromic forms of ichthyosis exist. Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. In nonsyndromic forms, these features are most evident in severe autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis, but to some extent also occur in the common type of non-congenital ichthyosis. A correct diagnosis of ichthyosis—essential not only for genetic counseling but also for adequate patient information about prognosis and therapeutic options—is becoming increasingly feasible thanks to recent progress in genetic knowledge and DNA sequencing methods. This paper reviews the most important aspects of nonsyndromic ichthyoses, focusing on new knowledge about the pathophysiology of the disorders, which will hopefully lead to novel ideas about therapy.

While already used by several authors, the umbrella term pleomorphic ichthyosis was not proposed until after the Terminology Consensus Meeting in Sorèze 2009 [32], and hence no consensus exists about its use.

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Title: Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Authors: Anders Vahlquist
Judith Fischer
Hans Törmä
Publication date: 01-02-2018
Publisher: Springer International Publishing
Published in: American Journal of Clinical Dermatology / Issue 1/2018
Print ISSN: 1175-0561
Electronic ISSN: 1179-1888
DOI: https://doi.org/10.1007/s40257-017-0313-x

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Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

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Keynote webinar | Spotlight on medication adherence

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Abstract

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