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Case Reports
. 2012 Aug 27:2012:bcr0220125823.
doi: 10.1136/bcr.02.2012.5823.

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia

Kristjan Dereksson  1 , Sveinn Kjartansson, Hulda Hjartardóttir, Reynir Arngrimsson
Affiliations
Case Reports

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia

Kristjan Dereksson et al. BMJ Case Rep. .

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.

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Conflict of interest statement

Competing interests: None.

Figures

Figure 1
Figure 1
A) Separation of the amniotic- and chorionic sacs was noted at week 31. The intermembrane space was filled with clear translucent fluid. B) The amniotic fluid surrounding the child was dense with sediment.
Figure 2
Figure 2
A) The child’s skin was red, thickened, oedematous or spongy with a granular appearance. The face was moon-shaped. B) Cobblestone appearance of the skin on the forearm. C) The fingers and toes were flexed because of thickened, hyperkeratotic skin of the palms and soles. The nails were unusually long. D) Hyperkeratosis of the skin was clearly seen on the pads of the toes and fingers and was shed during the newborn period.
See this image and copyright information in PMC

References

    1. Klar J, Schweiger M, Zimmerman R, et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 2009;85:248–53. - PMC - PubMed
    1. Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol 2009;10:351–64. - PubMed
    1. Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 2006;42:83–9. - PubMed
    1. Bygum A, Westermark P, Brandrup F. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. J Am Acad Dermatol 2008;59(5 Suppl):S71–4. - PubMed
    1. Klar J, Gedde-Dahl T, Jr, Larsson M, et al. Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. J Med Genet 2004;41:208–12. - PMC - PubMed

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