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Aplasia Cutis Congenita of the Lower Limb: A Case Report
Aplasia cutis congenita type VI is a genetic disorder that presents with congenital skin absence, blistering, and nail abnormalities. We present the case of a male newborn who presented with an absence of skin in the entire left leg and the lower part of the left thigh. On the second day of life, he...
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/PMC9898798/ https://www.ncbi.nlm.nih.gov/pubmed/36751246 http://dx.doi.org/10.7759/cureus.33376 |
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author | Alharthi, Abdulwahab M Turkistani, Abdulhadi A Alallah, Bader Alallah, Jubara |
author_facet | Alharthi, Abdulwahab M Turkistani, Abdulhadi A Alallah, Bader Alallah, Jubara |
author_sort | Alharthi, Abdulwahab M |
collection | PubMed |
description | Aplasia cutis congenita type VI is a genetic disorder that presents with congenital skin absence, blistering, and nail abnormalities. We present the case of a male newborn who presented with an absence of skin in the entire left leg and the lower part of the left thigh. On the second day of life, he had new skin lesions that started to appear over the fingernail beds, nasal bridge, thighs, and buttocks. There were no other associated anomalies such as pyloric atresia, renal abnormalities, or ureteral stenosis. A diagnosis of Bart’s syndrome was made based on clinical diagnosis and previous presentation in the family. The patient developed sepsis and osteomyelitis of the lower limb and eventually died. |
format | Online Article Text |
id | pubmed-9898798 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-98987982023-02-06 Aplasia Cutis Congenita of the Lower Limb: A Case Report Alharthi, Abdulwahab M Turkistani, Abdulhadi A Alallah, Bader Alallah, Jubara Cureus Dermatology Aplasia cutis congenita type VI is a genetic disorder that presents with congenital skin absence, blistering, and nail abnormalities. We present the case of a male newborn who presented with an absence of skin in the entire left leg and the lower part of the left thigh. On the second day of life, he had new skin lesions that started to appear over the fingernail beds, nasal bridge, thighs, and buttocks. There were no other associated anomalies such as pyloric atresia, renal abnormalities, or ureteral stenosis. A diagnosis of Bart’s syndrome was made based on clinical diagnosis and previous presentation in the family. The patient developed sepsis and osteomyelitis of the lower limb and eventually died. Cureus 2023-01-04 /pmc/articles/PMC9898798/ /pubmed/36751246 http://dx.doi.org/10.7759/cureus.33376 Text en Copyright © 2023, Alharthi 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 Alharthi, Abdulwahab M Turkistani, Abdulhadi A Alallah, Bader Alallah, Jubara Aplasia Cutis Congenita of the Lower Limb: A Case Report |
title | Aplasia Cutis Congenita of the Lower Limb: A Case Report |
title_full | Aplasia Cutis Congenita of the Lower Limb: A Case Report |
title_fullStr | Aplasia Cutis Congenita of the Lower Limb: A Case Report |
title_full_unstemmed | Aplasia Cutis Congenita of the Lower Limb: A Case Report |
title_short | Aplasia Cutis Congenita of the Lower Limb: A Case Report |
title_sort | aplasia cutis congenita of the lower limb: a case report |
topic | Dermatology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9898798/ https://www.ncbi.nlm.nih.gov/pubmed/36751246 http://dx.doi.org/10.7759/cureus.33376 |
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