Ichthyosen : Pathophysiologische Modelle der epidermalen Differenzierung [The ichthyoses : Pathophysiological models of epidermal differentiation].

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Ressource 1Download: serval:BIB_1434408E334B.P001 (1204.01 [Ko])
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Serval ID
serval:BIB_1434408E334B
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Ichthyosen : Pathophysiologische Modelle der epidermalen Differenzierung [The ichthyoses : Pathophysiological models of epidermal differentiation].
Journal
Der Hautarzt
Author(s)
Hohl D., Huber M.
ISSN
1432-1173 (Electronic)
ISSN-L
0017-8470
Publication state
Published
Issued date
2013
Volume
64
Number
1
Pages
12-21
Language
german
Notes
Publication types: English Abstract ; Journal ArticlePublication Status: ppublish. PDF type: Leitthema
Abstract
The ichthyoses are a heterogeneous group of monogenetically inherited disorders of cornification, and characterized clinically by scaling or hyperkeratosis. Historically, they were classified by clinical features and inheritance patterns. As a result of the recent molecular biological revolution, the ichthyoses are now recognized as comprising many diverse entities. Importantly, identical phenotypes may be caused by mutations in multiple genes, while mutations in a single gene may result in multiple and sometimes widely divergent phenotypes. The considerable complexity of this clinically and genetically heterogeneous group of disorders has prompted the need for a new classification. A classification that uses terminology based on a combination of the clinical and molecular genetic details, for instance loricrin keratoderma, is desirable. In this chapter we will use in principle the nosology adopted recently by an international group of experts at the First Ichthyosis Consensus Conference in Sorèz, France.
Pubmed
Web of science
Open Access
Yes
Create date
21/02/2013 17:47
Last modification date
01/10/2019 6:16
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