Linked Life Data

11056420

Source:http://linkedlifedata.com/resource/pubmed/id/11056420

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2000-12-13
pubmed:abstractText
Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disease. Only recently, mutations in the MRP6 gene on chromosome 16p13.1 have been identified in PXE families. Up to now, predictive testing has not been available. Since ultrastructural connective tissue alterations in overtly normal skin of predilection sites have supported preclinical diagnosis in children of affected individuals, we have screened the daughters of a PXE patient for these alterations. The patient's biopsy from lesional skin revealed elastin and collagen fibril abnormalities, but biopsies from the clinically inconspicuous daughters showed only ultrastructural alterations of collagen fibrils. These findings are inconclusive regarding the diagnosis of PXE in the daughters. Predictive or preclinical diagnosis of incurable, late-onset disorders creates complex social, ethical, and legal problems which call for special management strategies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1167-1122
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
513-6
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:articleTitle
Preclinical diagnosis of pseudoxanthoma elasticum - methodological restrictions and ethical problems.
pubmed:affiliation
Department of Dermatology, Krankenhaus Neukölln, Rudower Str. 48, D-12351 Berlin, Germany. hermes@knk-berlin.de
pubmed:publicationType
Journal Article, Case Reports