Pseudoxanthoma Elasticum: Case Report

Authors

  • Roger Kim Tissue pathology, Douglas Hanly Moir Pathology, Macquarie Park, NSW, Australia
  • Esther Myint Tissue pathology, Douglas Hanly Moir Pathology, Macquarie Park, NSW, Australia
  • Vallapan Thiruvilangam Tissue pathology, Douglas Hanly Moir Pathology, Macquarie Park, NSW, Australia
  • Than Than Htwe Discipline of Pathology, Preclinical-Based Department, Faculty of Medicine, University Kuala Lumpur-Royal College of Medicine Perak, Malaysia
  • Gerald Murphy Deakin Medical Centre, Mildura, VIC, Australia

Keywords:

Pseudoxanthoma elasticum, molecular genetic

Abstract

Pseudoxanthoma elasticum (PXE) is a rare multisystem genetic disorder with estimated prevalence of 1 in 25,000. It is characterised by calcification of the elastic fibres in the skin, eyes and cardiovascular system which can lead to loss of visual acuity and early cardiovascular complications. This article describes a case of PXE in a 33-year-old female and the role of histopathology and molecular genetic testing in confirming the diagnosis.

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Published

01-11-2022

Issue

Vol. 5 No. 2 (2022)

Section

Case Report

License

Journal of Engineering Technology (JET)  is an open-access journal that follows the Creative Commons Attribution-Non-commercial 4.0 International License (CC BY-NC 4.0)

How to Cite

Roger Kim, Esther Myint, Vallapan Thiruvilangam, Than Than Htwe, & Gerald Murphy. (2022). Pseudoxanthoma Elasticum: Case Report. Asian Journal of Medicine & Health Sciences, 5(2), 242-249. https://ejournal.unikl.edu.my/index.php/ajmhs/article/view/154