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Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report
Pseudoxanthoma elasticum (PXE) is a rare multisystem disease characterized by progressive calcification and disintegration of elastic fibers. The disorder is attributed to a genetic mutation occurring in the ABCC6 gene, which encodes for the ATP-binding cassette transporter C6. This gene is located...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10643424/ https://www.ncbi.nlm.nih.gov/pubmed/38022106 http://dx.doi.org/10.7759/cureus.47041 |
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author | Almutairi, Rawan Al-Sabah, Humoud |
author_facet | Almutairi, Rawan Al-Sabah, Humoud |
author_sort | Almutairi, Rawan |
collection | PubMed |
description | Pseudoxanthoma elasticum (PXE) is a rare multisystem disease characterized by progressive calcification and disintegration of elastic fibers. The disorder is attributed to a genetic mutation occurring in the ABCC6 gene, which encodes for the ATP-binding cassette transporter C6. This gene is located on chromosome 16. Patients commonly present with cutaneous, ophthalmic, and cardiovascular manifestations. However, there is a significant degree of phenotypic diversity. The diagnosis is determined by clinical manifestations, histological analysis of the lesions, and genetic analysis. The present study includes a case report of a 12-year-old female patient who presented with a chief complaint of painless, mildly pruritic yellow papules located on her neck for a period of one year. These papules were accompanied by comedones. |
format | Online Article Text |
id | pubmed-10643424 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-106434242023-10-14 Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report Almutairi, Rawan Al-Sabah, Humoud Cureus Dermatology Pseudoxanthoma elasticum (PXE) is a rare multisystem disease characterized by progressive calcification and disintegration of elastic fibers. The disorder is attributed to a genetic mutation occurring in the ABCC6 gene, which encodes for the ATP-binding cassette transporter C6. This gene is located on chromosome 16. Patients commonly present with cutaneous, ophthalmic, and cardiovascular manifestations. However, there is a significant degree of phenotypic diversity. The diagnosis is determined by clinical manifestations, histological analysis of the lesions, and genetic analysis. The present study includes a case report of a 12-year-old female patient who presented with a chief complaint of painless, mildly pruritic yellow papules located on her neck for a period of one year. These papules were accompanied by comedones. Cureus 2023-10-14 /pmc/articles/PMC10643424/ /pubmed/38022106 http://dx.doi.org/10.7759/cureus.47041 Text en Copyright © 2023, Almutairi et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Dermatology Almutairi, Rawan Al-Sabah, Humoud Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report |
title | Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report |
title_full | Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report |
title_fullStr | Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report |
title_full_unstemmed | Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report |
title_short | Pseudoxanthoma Elasticum With Comedones in a 12-Year-Old Female Patient: A Case Report |
title_sort | pseudoxanthoma elasticum with comedones in a 12-year-old female patient: a case report |
topic | Dermatology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10643424/ https://www.ncbi.nlm.nih.gov/pubmed/38022106 http://dx.doi.org/10.7759/cureus.47041 |
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