Linked Life Data

16935789

Source:http://linkedlifedata.com/resource/pubmed/id/16935789

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2006-8-28
pubmed:databankReference
pubmed:abstractText
Ichthyoses are a heterogeneous group of cornification disorders characterized by a generalized scaling of the skin. Common types such as ichthyosis vulgaris and X-linked recessive ichthyosis manifest after birth. In contrast, rare congenital ichthyoses are inherited diseases, which at birth typically present collodion membranes or ichthyosiform erythroderma. Syndromic ichthyoses display a variety of outstanding associated non-cutaneous symptoms. Because of their rarity these disorders often pose a diagnostic challenge for the clinician. This review discusses a broad spectrum of 13 isolated types of ichthyoses, 11 different syndromes with associated ichthyosis and four related cornification disorders. The clinical, ultrastructural and biochemical characteristics are described along with the different molecular causes of ichthyosis. Special attention is given to lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma. The different pathomechanisms causing ichthyosis provide a fascinating insight into the role of various proteins, enzymes, lipids and metabolic pathways involved in terminal epidermal differentiation/keratinisation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1167-1122
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
349-59
pubmed:dateRevised
2007-7-10
pubmed:meshHeading
pubmed:articleTitle
Ichthyoses: differential diagnosis and molecular genetics.
pubmed:affiliation
Department of Dermatology, University Hospital, Von-Esmarch-Str. 58, 48149 Münster, Germany. ojiv@uni-muenster.de
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't