A review of harlequin ichthyosis.
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.
Layton
Jason
J
Portsmouth Naval Medical Center, USA. jasdanlayton@hotmail.com
D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000145:classification / Q000175:diagnosis / Q000196:embryology / Q000235:genetics / Q000628:therapy; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal / Q000379:methods; D017283:Neonatal Nursing / Q000379:methods; D010290:Parents / Q000193:education / Q000523:psychology; D035583:Rare Diseases; D012307:Risk Factors; D012867:Skin / Q000196:embryology / Q000254:growth & development; D017592:Skin Care / Q000379:methods / Q000451:nursing; D012944:Social Support