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Pseudoxanthoma Elasticum and Sudden Death
Author(s) -
Combrinck Marais,
Gilbert John D.,
Byard Roger W.
Publication year - 2011
Publication title -
journal of forensic sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.715
H-Index - 96
eISSN - 1556-4029
pISSN - 0022-1198
DOI - 10.1111/j.1556-4029.2010.01647.x
Subject(s) - pseudoxanthoma elasticum , angioid streaks , medicine , sudden death , autopsy , population , mitral valve prolapse , cardiology , ischemia , pathology , sudden cardiac death , cause of death , coronary arteries , disease , ophthalmology , mitral valve , retinal , artery , environmental health , choroidal neovascularization
Abstract: 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.