title: Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.
abstract: A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. The individual's appearance improved dramatically during hospitalization and at discharge resembled congenital ichthyosiform erythroderma.
authors.affiliation: Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut.
authors.forename: Arash
authors.initials: A
authors.lastname: Koochek
authors.forename: Keith A
authors.initials: KA
authors.lastname: Choate
authors.forename: Leonard M
authors.initials: LM
authors.lastname: Milstone
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000628:therapy*; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: C473801:ABCA12 protein, human; D018528:ATP-Binding Cassette Transporters