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Ichthyosis Prematurity Syndrome 

Ichthyosis Prematurity Syndrome
Chapter:
Ichthyosis Prematurity Syndrome
Author(s):

Joakim Klar

, Anders Vahlqvist

, and Niklas Dahl

DOI:
10.1093/med/9780199934522.003.0222
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date: 07 March 2021

Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder that belongs to the group of syndromic congenital ichthyosis. The condition is characterized by premature birth with a thick caseous desquamating epidermis and neonatal asphyxia. After a few months of recovery, patients present with a mild non-scaly ichthyosis frequently associated with atopy. The disease is caused by mutations in the gene encoding the fatty acid transporter protein 4 (FATP4) that results in a reduced incorporation of very-long-chain fatty acids (VLCFA) into cellular lipids of the stratum corneum.

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