Akar Melek, Erdeve Omer, Gokmen Tuiln, Oguz Serife Suna, Dilmen Ugur, Sirvan Levent
Zekai Tahir Burak Maternity Hospital, Ankara, Turkey.
Fetal Pediatr Pathol. 2010 Jan;29(2):63-8. doi: 10.3109/15513811003614990.
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.
先天性局限性皮肤缺失（CLAS）已在遗传性大疱性表皮松解症（EB）的各个亚组中观察到。幽门闭锁（PA）是一种与EB相关的罕见疾病。在此，我们描述了三名出生时患有PA、CLAS和EB的早产男婴，其中一名在胃和心包上有多个水疱和糜烂。据我们所知，这是关于PA-EB-CLAS关联的首次发现报告。
