title: Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.
abstract: Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder. Children are born prematurely with thick skin and have been found to develop neonatal asphyxia due to occlusions in the bronchial tree from debris in the amniotic fluid. At 31 weeks of gestation, separation of amniotic and chorionic membranes was identified as well as polyhydramnion. The child was born 2 weeks later, with thickened skin with a granular appearance and required immediate ventilation and intensive care. At 2 years of age, the patient has developed an atopic skin condition with severe itching, recurrent skin infections, food intolerance and periods of wheezing. Prenatal observation of separation of foetal membranes or dense amniotic fluid may be signs of IPS and severe complication immediately after birth.
authors.affiliation: Pediatrics Department, Skåne University Hospital, Malmö, Sweden.
authors.forename: Kristjan
authors.initials: K
authors.lastname: Dereksson
authors.forename: Sveinn
authors.initials: S
authors.lastname: Kjartansson
authors.forename: Hulda
authors.initials: H
authors.lastname: Hjartardóttir
authors.forename: Reynir
authors.initials: R
authors.lastname: Arngrimsson
mesh_terms: D000328:Adult; D000650:Amnion / Q000000981:diagnostic imaging*; D015783:Aniridia; D001238:Asphyxia Neonatorum / Q000000981:diagnostic imaging* / Q000235:genetics; D001946:Breech Presentation; D002585:Cesarean Section; D002675:Child, Preschool; D002823:Chorion / Q000000981:diagnostic imaging*; D018389:Codon, Nonsense; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D050612:Fatty Acid Transport Proteins / Q000235:genetics; D005260:Female; D005322:Premature Rupture of Fetal Membranes / Q000000981:diagnostic imaging / Q000235:genetics; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000000981:diagnostic imaging* / Q000235:genetics; D007090:Image Interpretation, Computer-Assisted; D021621:Imaging, Three-Dimensional; D007223:Infant; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D006831:Polyhydramnios / Q000000981:diagnostic imaging / Q000235:genetics; D011247:Pregnancy; D011596:Psychomotor Disorders; D013548:Sweden; D016216:Ultrasonography, Prenatal
chemical_list: D018389:Codon, Nonsense; D050612:Fatty Acid Transport Proteins; C493571:SLC27A4 protein, human