Linked Life Data

1937472

Source:http://linkedlifedata.com/resource/pubmed/id/1937472

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1991-12-3
pubmed:abstractText
The preferred description for the Grönblad-Strandberg syndrome, pseudoxanthoma elasticum (PXE), refers only to the cutaneous aspect of the disease, although the skin is the least severely involved organ. The potential catastrophic manifestation of this heterogeneous heritable disorder is described in a dominant pedigree where mother and grandmother died because of major vascular problems. The family requested predictive testing of the three children. Diagnosis of PXE is usually performed by morphological examination of skin lesions, which reveal incrustations formed by inorganic ions (mainly calcium) and various organic (degraded?) materials in the elastin moiety of the elastic fibers. The ubiquitous elastic fibers in other organs and arteries may be similarly involved. Moreover, there is co-involvement of collagen fibrils at the electron microscopical level. The three adolescent siblings did not show any clinical PXE symptoms. However, ultrastructural investigation of overtly normal skin in predilection sites gave a positive diagnosis for this dominant PXE type. Dermal connective tissue showed a specific aberrant pattern: elastin of elastic fibers regularly contained small foci of calcification resembling those in perilesional skin of the mother and other PXE patients; in collagen bundles adjacent to altered elastic fibers, collagen fibrils occurred with thickened diameters and flower-like contours; ground substance material was increased. The possible pathogenetic mechanism and problems posed by predictive testing of adult-onset diseases are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
87
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
693-700
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.
pubmed:affiliation
Institut für Ultrastrukturforschung der Haut, Universitäts-Hautklinik, Heidelberg, Federal Republic of Germany.
pubmed:publicationType
Journal Article, Case Reports