Publication: Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report
Date
2024
Journal Title
Journal ISSN
Volume Title
Publisher
Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
Abstract
Abstract:
Pseudoxanthoma elasticum (PXE) is a rare hereditary condition marked by the accumulation of fragmented and calcified elastic fibers in the body's tissues, leading to skin, vascular, and ocular involvement. In clinical practice, the most prevalent and typically earliest indication of PXE is observed through skin manifestations, which include laxity and the presence of yellowish papules and plaques. Here we report a case of a 40-year-old woman from Nepal presenting with yellowish multiple papules and plaque around the neck and axilla for 20 years, slowly increasing in size and number. A skin biopsy revealed fragmented eosinophilic elastic fibers in the dermis, consistent with PXE. Echocardiography, slit lamp, and indirect ophthalmoscopic examination were done.
Description
Shashwata Raj Pandit
Kist Medical College and Teaching Hospital, Nepal
https://orcid.org/0009-0007-9769-0106
Anupa Khadka
Kist Medical College and Teaching Hospital, Nepal
Ayush Jha
Kist Medical College and Teaching Hospital, Nepal
Rima Shrestha
Kist Medical College and Teaching Hospital, Nepal
Ravina Bade Shrestha
Kist Medical College and Teaching Hospital, Nepal
Keywords
Angioid Streaks, Elastic Fibers, Pseudoxanthoma Elasticum