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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
Descripción
Sumario: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.