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September 2016

Ichthyosis Prematurity SyndromeFrom Fetus to Adulthood

Author Affiliations
  • 1St John’s Institute of Dermatology, King’s College London, Guy’s Campus, London, England
  • 2Viapath, St Thomas’ Hospital, London, England

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Dermatol. 2016;152(9):1055-1058. doi:10.1001/jamadermatol.2016.1187

Ichthyosis prematurity syndrome (IPS) is a rare form of autosomal recessive congenital ichthyosis caused by mutations in SLC27A4 (OMIM: 604194) encoding fatty acid transport protein 4 (FATP4) that affect keratinocyte differentiation and skin barrier formation. It is characterized by prematurity, thick caseous desquamating epidermis, and perinatal respiratory asphyxia. Despite its well-described clinical features and major perinatal mortality risk, IPS is still rarely recognized, and only a few cases have been reported.

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