Related Experiment Video
Updated: Jun 14, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Visceral bullae: A new finding in Bart's syndrome
Melek Akar1, Omer Erdeve, Tuiln Gokmen
1Zekai Tahir Burak Maternity Hospital, Ankara, Turkey.
Abstract:
Congenital localized absence of the skin (CLAS) has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia (PA) is a rare disorder that is associated with EB. Here, we describe three preterm male infants with PA, CLAS, and EB at birth, one of whom had multiple bullae and erosions on the stomach and pericardium. To the best of our knowledge, this is the first report of findings regarding a PA-EB-CLAS association.
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