Pseudoxanthoma Elasticum and Sudden Death
Article first published online: 6 JAN 2011
© 2011 American Academy of Forensic Sciences
Journal of Forensic Sciences
Volume 56, Issue 2, pages 418–422, March 2011
How to Cite
Combrinck, M., Gilbert, J. D. and Byard, R. W. (2011), Pseudoxanthoma Elasticum and Sudden Death. Journal of Forensic Sciences, 56: 418–422. doi: 10.1111/j.1556-4029.2010.01647.x
- Issue published online: 22 FEB 2011
- Article first published online: 6 JAN 2011
- Received 28 Nov. 2009; and in revised form 2 Feb. 2010; accepted 13 Feb. 2010.
- forensic science;
- pseudoxanthoma elasticum;
- connective tissue disorder;
- sudden death;
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.