Pseudoxanthoma elasticum and sudden death

J Forensic Sci. 2011 Mar;56(2):418-22. doi: 10.1111/j.1556-4029.2010.01647.x. Epub 2011 Jan 6.


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.

Publication types

  • Review

MeSH terms

  • Atherosclerosis / genetics
  • Biopsy
  • Calcinosis
  • Death, Sudden / etiology*
  • Female
  • Forensic Pathology
  • Gastrointestinal Hemorrhage / complications
  • Gastrointestinal Hemorrhage / etiology
  • Humans
  • Hypertension / complications
  • Hypertension / etiology
  • Incidence
  • Intracranial Hemorrhages / complications
  • Intracranial Hemorrhages / etiology
  • Microscopy, Electron
  • Mitral Valve Prolapse / complications
  • Mitral Valve Prolapse / etiology
  • Multidrug Resistance-Associated Proteins / genetics
  • Mutation
  • Myocardial Ischemia / complications
  • Myocardial Ischemia / etiology
  • Pregnancy
  • Pregnancy Complications
  • Pseudoxanthoma Elasticum / complications*
  • Pseudoxanthoma Elasticum / diagnosis
  • Pseudoxanthoma Elasticum / genetics
  • Skin / pathology


  • ABCC6 protein, human
  • Multidrug Resistance-Associated Proteins