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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.
AuthorsKristjan Dereksson, Sveinn Kjartansson, Hulda Hjartardóttir, Reynir Arngrimsson
JournalBMJ case reports (BMJ Case Rep) Vol. 2012 (Aug 27 2012) ISSN: 1757-790X [Electronic] England
PMID22927265 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Codon, Nonsense
  • Fatty Acid Transport Proteins
  • SLC27A4 protein, human
Topics
  • Adult
  • Amnion (diagnostic imaging)
  • Aniridia
  • Asphyxia Neonatorum (diagnostic imaging, genetics)
  • Breech Presentation
  • Cesarean Section
  • Child, Preschool
  • Chorion (diagnostic imaging)
  • Codon, Nonsense
  • Diagnosis, Differential
  • Exons (genetics)
  • Fatty Acid Transport Proteins (genetics)
  • Female
  • Fetal Membranes, Premature Rupture (diagnostic imaging, genetics)
  • Follow-Up Studies
  • Homozygote
  • Humans
  • Ichthyosis (diagnostic imaging, genetics)
  • Image Interpretation, Computer-Assisted
  • Imaging, Three-Dimensional
  • Infant
  • Infant, Newborn
  • Infant, Premature, Diseases (diagnostic imaging, genetics)
  • Kidney (abnormalities)
  • Polyhydramnios (diagnostic imaging, genetics)
  • Pregnancy
  • Psychomotor Disorders
  • Sweden
  • Ultrasonography, Prenatal

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