Abstract
Harlequin ichthyosis is an extremely rare and historically lethal congenital disorder of the skin caused by abnormal keratinization. This article reviews the embryology and currently understood pathophysiology of the disease, as well as current methods used to diagnose and treat these infants. There are serious implications for the family to consider: the high risk that their newborn will die soon, as well as future family planning issues.
Publisher
Springer Publishing Company
Subject
Critical Care and Intensive Care Medicine,Critical Care,General Medicine,Pediatrics, Perinatology, and Child Health
Cited by
9 articles.
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