VISCERAL BULLAE: A New Finding in Bart's Syndrome

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 bull...

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Published inFetal and pediatric pathology Vol. 29; no. 2; pp. 63 - 68
Main Authors Akar, Melek, Erdeve, Omer, Gokmen, Tuiln, Oguz, Serife Suna, Dilmen, Ugur, Sirvan, Levent
Format Journal Article
LanguageEnglish
Published England Informa UK Ltd 01.03.2010
Taylor & Francis
Subjects
Bart's syndrome
Blister - complications
Blister - genetics
bullae
CLAS
epidermolysis bullosa
Epidermolysis Bullosa - complications
Epidermolysis Bullosa - genetics
Female
Humans
Infant
Infant, Newborn
Infant, Premature
Male
Pregnancy
pyloric atresia
Rare Diseases - complications
Rare Diseases - genetics
Skin
Syndrome
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1551-3815
1551-3823
DOI:10.3109/15513811003614990