Literature DB >> 22927265

Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.

Kristjan Dereksson1, Sveinn Kjartansson, Hulda Hjartardóttir, Reynir Arngrimsson.   

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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Year:  2012        PMID: 22927265      PMCID: PMC3433503          DOI: 10.1136/bcr.02.2012.5823

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  11 in total

1.  Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

Authors:  J Klar; T Gedde-Dahl; M Larsson; M Pigg; B Carlsson; D Tentler; A Vahlquist; N Dahl
Journal:  J Med Genet       Date:  2004-03       Impact factor: 6.318

2.  Amnion-chorion separation after 17 weeks' gestation.

Authors:  B Bromley; T D Shipp; B R Benacerraf
Journal:  Obstet Gynecol       Date:  1999-12       Impact factor: 7.661

3.  Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism.

Authors:  Denis Khnykin; Jørgen Rønnevig; Margareta Johnsson; Jan C Sitek; Harm-Gerd K Blaas; Ingrid Hausser; Finn-Eirik Johansen; Frode L Jahnsen
Journal:  J Am Acad Dermatol       Date:  2011-08-19       Impact factor: 11.527

4.  Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome.

Authors:  H G K Blaas; K Å Salvesen; D Khnykin; F L Jahnsen; S H Eik-Nes
Journal:  Ultrasound Obstet Gynecol       Date:  2012-03-12       Impact factor: 7.299

5.  Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies.

Authors:  Young Nam Kim; Dae Hoon Jeong; Su Jeon Jeong; Moon Su Sung; Mi Seon Kang; Ki Tae Kim
Journal:  Prenat Diagn       Date:  2007-04       Impact factor: 3.050

Review 6.  Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

Authors:  Masashi Akiyama
Journal:  J Dermatol Sci       Date:  2006-02-14       Impact factor: 4.563

7.  Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Authors:  Joakim Klar; Martina Schweiger; Robert Zimmerman; Rudolf Zechner; Hao Li; Hans Törmä; Anders Vahlquist; Bakar Bouadjar; Niklas Dahl; Judith Fischer
Journal:  Am J Hum Genet       Date:  2009-07-23       Impact factor: 11.025

Review 8.  Ichthyosis: clinical manifestations and practical treatment options.

Authors:  Vinzenz Oji; Heiko Traupe
Journal:  Am J Clin Dermatol       Date:  2009       Impact factor: 7.403

9.  Role of fatty acid transporters in epidermis: Implications for health and disease.

Authors:  Denis Khnykin; Jeffrey H Miner; Frode Jahnsen
Journal:  Dermatoendocrinol       Date:  2011-04-01

10.  Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy.

Authors:  Thomas Herrmann; Frank van der Hoeven; Hermann-Josef Grone; Adrian Francis Stewart; Lutz Langbein; Iris Kaiser; Gerhard Liebisch; Isabella Gosch; Florian Buchkremer; Wolfgang Drobnik; Gerd Schmitz; Wolfgang Stremmel
Journal:  J Cell Biol       Date:  2003-06-23       Impact factor: 10.539

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