A Review of Harlequin Ichthyosis

Layton, Jason
May 2005
Neonatal Network;May/Jun2005, Vol. 24 Issue 3, p17
Academic Journal
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.


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