title: Pseudoxanthoma elasticum and 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.
authors.affiliation: SA Pathology, Frome Rd, Adelaide 5000, SA, Australia.
authors.forename: Marais
authors.initials: M
authors.lastname: Combrinck
authors.forename: John D
authors.initials: JD
authors.lastname: Gilbert
authors.forename: Roger W
authors.initials: RW
authors.lastname: Byard
mesh_terms: D050197:Atherosclerosis / Q000235:genetics; D001706:Biopsy; D002114:Calcinosis; D003645:Death, Sudden / Q000209:etiology*; D005260:Female; D049429:Forensic Pathology; D006471:Gastrointestinal Hemorrhage / Q000150:complications / Q000209:etiology; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000209:etiology; D015994:Incidence; D020300:Intracranial Hemorrhages / Q000150:complications / Q000209:etiology; D008854:Microscopy, Electron; D008945:Mitral Valve Prolapse / Q000150:complications / Q000209:etiology; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D009154:Mutation; D017202:Myocardial Ischemia / Q000150:complications / Q000209:etiology; D011247:Pregnancy; D011248:Pregnancy Complications; D011561:Pseudoxanthoma Elasticum / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012867:Skin / Q000473:pathology
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human