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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 2(21), p. 123-133, 2012

DOI: 10.1038/ejhg.2012.121

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Inherited ichthyoses/generalized Mendelian disorders of cornification

Journal article published in 2012 by Matthias Schmuth, Verena Martinz, Andreas R. Janecke ORCID, Christine Fauth, Anna Schossig, Johannes Zschocke ORCID, Robert Gruber
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Diagnosing a specific entity is a particular challenge for the nonspecialist presented with the common clinical scaling. For the clinician, this review outlines an algorithmic approach for utilizing diagnostic clues to narrow down the differential diagnosis and to guide further testing and treatment options.European Journal of Human Genetics advance online publication, 27 June 2012; doi:10.1038/ejhg.2012.121.