title: Harlequin Infant Born to a Varicella Infected Mother: A Case Report.
abstract: Harlequin ichthyosis is a rare, severe form of congenital ichthyosis characterised by distinct physical appearance of the infant. It has occurrence of 1 in 1 million births and over 100 cases have been reported so far. It is caused by mutation in ABCA12 gene involved in lipid transport leading to profound thickening of stratum corneum. The mainstay of management relies on supportive care & administration of retinoid derivatives. Outcome is usually fatal and most of the babies die during neonatal period. In this article, we report a case of harlequin baby born of non-consanguineous marriage with history of chicken pox in the mother during first trimester of pregnancy.
authors.affiliation: 1Senior resident, Department of Pathology, JIPMER, Puducherry, India.
authors.forename: Meyyappa Devan
authors.initials: MD
authors.lastname: Rajagopal
authors.forename: Pampa
authors.initials: P
authors.lastname: Ch Toi
authors.forename: Nishad
authors.initials: N
authors.lastname: Plakkal
authors.forename: Pavithra
authors.initials: P
authors.lastname: Ayyanar
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D015984:Causality; D002644:Chickenpox; D017931:DNA Primers / Q000600:supply & distribution; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D008297:Male; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000821:virology*; D011261:Pregnancy Trimester, First
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers
keywords: Harlequin icthyosis; genodermatosis; varicella