A forensic autopsy case of death in a patient with pseudoxanthoma elasticum – Dermatopathologic findings as a clue of the cause of death

Abstract

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder, characterized by papular skin lesions and cutaneous laxity caused by fragmentation and mineralization of elastic fibers. Although vascular and retinal aspects of this disease and their associated complications are well characterized, few authors have focused on the increased incidence of epilepsy in patients with PXE. A 28-year-old Korean male was found dead in his work place with bloody-foamy discharge from his mouth and nostrils. He reportedly had a convulsive episode 5 days prior to his death in the work place. The skin showed generalized laxity and many creases with maculopapular pigmentations. A histopathologic examination of the skin revealed Pseudoxanthoma elasticum. Based on the histopathological findings and medical history, death was postulated to be due to ‘an internal cause, possibly related to a seizure attack’. Our findings suggest that histopathologic examinations of any lesions found during the forensic autopsy should be encouraged.