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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...

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Detalles Bibliográficos
Autores principales: Alfayez, Yasmin, Alsharif, Sahar, Santli, Adel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
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.
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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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