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A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence o...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624250/ https://www.ncbi.nlm.nih.gov/pubmed/29033814 http://dx.doi.org/10.1159/000478889 |
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author | Alfayez, Yasmin Alsharif, Sahar Santli, Adel |
author_facet | Alfayez, Yasmin Alsharif, Sahar Santli, Adel |
author_sort | Alfayez, Yasmin |
collection | PubMed |
description | Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. There was no systemic involvement such as pyloric atresia, ureteral stenosis, renal abnormalities, or arthrogryposis. All laboratory work and imaging studies were normal. A diagnosis of Bart syndrome was made based on previous presentation. We managed the patient with conservative methods. Complete epithelialization occurred after several weeks. |
format | Online Article Text |
id | pubmed-5624250 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-56242502017-10-13 A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome Alfayez, Yasmin Alsharif, Sahar Santli, Adel Case Rep Dermatol Single Case Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. There was no systemic involvement such as pyloric atresia, ureteral stenosis, renal abnormalities, or arthrogryposis. All laboratory work and imaging studies were normal. A diagnosis of Bart syndrome was made based on previous presentation. We managed the patient with conservative methods. Complete epithelialization occurred after several weeks. S. Karger AG 2017-08-03 /pmc/articles/PMC5624250/ /pubmed/29033814 http://dx.doi.org/10.1159/000478889 Text en Copyright © 2017 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Single Case Alfayez, Yasmin Alsharif, Sahar Santli, Adel A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome |
title | A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome |
title_full | A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome |
title_fullStr | A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome |
title_full_unstemmed | A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome |
title_short | A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome |
title_sort | case of aplasia cutis congenita type vi: bart syndrome |
topic | Single Case |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624250/ https://www.ncbi.nlm.nih.gov/pubmed/29033814 http://dx.doi.org/10.1159/000478889 |
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