Document Detail

Pseudoxanthoma Elasticum and Sudden Death.
MedLine Citation:
PMID:  21210805     Owner:  NLM     Status:  Publisher    
  Pseudoxanthoma elasticum (PXE) is a generalized connective tissue disorder in which there is calcification of elastic fibers within arteries, eyes, and skin. Characteristic features include yellow-orange papular skin lesions, angioid streaks radiating out from the optic discs, and arterial calcification. The prevalence in the general population varies widely from 1/70,000 to 1/160,000. PXE has an autosomal recessive inheritance pattern and results from mutations in the ATP-binding cassette transporter C6 (ABCC6) that has been mapped to 16p13.1. Over 300 loss-of-function mutations have been identified. Individuals with PXE may come to forensic attention because of sudden death involving accelerated coronary atherosclerosis with acute myocardial ischemia, systemic hypertension, mitral valve prolapse, restrictive cardiomyopathy, gastrointestinal hemorrhage, and cerebral ischemia or hemorrhage. Because of the heritable nature of the disease, family counseling and screening are in order when previously unsuspected cases are encountered at autopsy.
Marais Combrinck; John D Gilbert; Roger W Byard
Related Documents :
11976865 - Non-occlusive mesenteric ischemia: etiology, diagnosis, and interventional therapy.
8747965 - The neurovascular relationships and the blood supply of the trochlear nerve: surgical a...
9414045 - An experimental porcine model of partial ischaemia of the distal colon.
10688425 - Inferior mesenteric artery aneurysm. case report.
12372755 - Separate origins of the left internal and external carotid arteries from the aortic arc...
22450865 - Large coronary aneurysm following laser angioplasty of the left anterior descending cor...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-6
Journal Detail:
Title:  Journal of forensic sciences     Volume:  -     ISSN:  1556-4029     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375370     Medline TA:  J Forensic Sci     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2011 American Academy of Forensic Sciences.
SA Pathology, Frome Rd, Adelaide 5000, SA, Australia. Forensic Science SA, 21 Divett Place, Adelaide 5000, SA, Australia. Discipline of Pathology, The University of Adelaide, Frome Road, Adelaide 5005, SA, Australia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Filicide, Attempted Filicide, and Psychotic Disorders*
Next Document:  The Effect of Weight on the Femur: A Cross-Sectional Analysis*