Abstract
Pseudoxanthoma elasticum (PXE) is a rare inherited autosomal recessive disorder of connective tissue that typically presents in the second decade of life. It leads to progressive cutaneous, ocular and cardiovascular manifestations due to calcification. We report two sisters with PXE diagnosed in their teenage years and review the genetics, pathogenesis and multi-system associations. Comprehensive management to mitigate atherosclerotic risk factors and identify emerging sequelae is important to minimise the disease burden.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
