Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report
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 obs...
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| Format: | Article |
| Language: | English |
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Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
2024-04-01
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| Series: | Nepal Journal of Dermatology, Venereology & Leprology |
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| Online Access: | https://nepjol.info/index.php/NJDVL/article/view/63063 |
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| author | Shashwata Raj Pandit Anupa Khadka Ayush Jha Rima Shrestha Ravina Bade Shrestha |
| author_facet | Shashwata Raj Pandit Anupa Khadka Ayush Jha Rima Shrestha Ravina Bade Shrestha |
| author_sort | Shashwata Raj Pandit |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-dbdf13d17ebd42eb992ecf2e9d6e6fec |
| institution | Kabale University |
| issn | 2091-0231 2091-167X |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON) |
| record_format | Article |
| series | Nepal Journal of Dermatology, Venereology & Leprology |
| spelling | doaj-art-dbdf13d17ebd42eb992ecf2e9d6e6fec2025-08-24T10:05:33ZengSociety of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)Nepal Journal of Dermatology, Venereology & Leprology2091-02312091-167X2024-04-01221Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case ReportShashwata Raj Pandit0https://orcid.org/0009-0007-9769-0106Anupa Khadka1Ayush Jha2Rima Shrestha3Ravina Bade Shrestha4Kist Medical College and Teaching Hospital, NepalKist Medical College and Teaching Hospital, NepalKist Medical College and Teaching Hospital, NepalKist Medical College and Teaching Hospital, NepalKist Medical College and Teaching Hospital, Nepal 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. https://nepjol.info/index.php/NJDVL/article/view/63063Angioid StreaksElastic FibersPseudoxanthoma Elasticum. |
| spellingShingle | Shashwata Raj Pandit Anupa Khadka Ayush Jha Rima Shrestha Ravina Bade Shrestha Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report Nepal Journal of Dermatology, Venereology & Leprology Angioid Streaks Elastic Fibers Pseudoxanthoma Elasticum. |
| title | Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report |
| title_full | Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report |
| title_fullStr | Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report |
| title_full_unstemmed | Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report |
| title_short | Pseudoxanthoma Elasticum a Rare Genetic Disorder : A Case Report |
| title_sort | pseudoxanthoma elasticum a rare genetic disorder a case report |
| topic | Angioid Streaks Elastic Fibers Pseudoxanthoma Elasticum. |
| url | https://nepjol.info/index.php/NJDVL/article/view/63063 |
| work_keys_str_mv | AT shashwatarajpandit pseudoxanthomaelasticumararegeneticdisorderacasereport AT anupakhadka pseudoxanthomaelasticumararegeneticdisorderacasereport AT ayushjha pseudoxanthomaelasticumararegeneticdisorderacasereport AT rimashrestha pseudoxanthomaelasticumararegeneticdisorderacasereport AT ravinabadeshrestha pseudoxanthomaelasticumararegeneticdisorderacasereport |