Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report

Authors

  • 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

DOI:

https://doi.org/10.3126/njdvl.v22i1.63063

Keywords:

Angioid Streaks, Elastic Fibers, Pseudoxanthoma Elasticum.

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.

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Author Biographies

Shashwata Raj Pandit, Kist Medical College and Teaching Hospital, Nepal

Lecturer, Department of Dermatology, Venereology, Kist Medical College and Teaching Hospital, Nepal

Anupa Khadka, Kist Medical College and Teaching Hospital, Nepal

Lecturer,  Department of Dermatology and Venereology, Kist Medical College and Teaching Hospital, Nepal

Ayush Jha, Kist Medical College and Teaching Hospital, Nepal

Lecturer,  Department of Dermatology and Venereology, Kist Medical College and Teaching Hospital, Nepal

Rima Shrestha, Kist Medical College and Teaching Hospital, Nepal

Professor, Department of Dermatology and Venereology, Kist Medical College and Teaching Hospital, Nepal

Ravina Bade Shrestha, Kist Medical College and Teaching Hospital, Nepal

Resident, Department of Dermatology and Venereology, Kist Medical College and Teaching Hospital, Nepal

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Published

2024-04-02

How to Cite

Pandit, S. R., Khadka, A., Jha, A., Shrestha, R., & Shrestha, R. B. (2024). Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report. Nepal Journal of Dermatology, Venereology &Amp; Leprology, 22(1), 65–67. https://doi.org/10.3126/njdvl.v22i1.63063

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Section

Case Reports