Zeldzaam subtype van congenitale ichthyosis: Ichthyosis prematuriteitsyndroom (IPS)

Ichthyosis prematurity syndrome (IPS) is a rare subtype of autosomal recessive congenital ichthyosis and is caused by a mutation in the SLC27A4 gene encoding the fatty acid transport protein 4 (FATP4). It is characterised by premature birth, a thick white hyperkeratotic skin layer and desquamation, respiratory complications and eosinophilia. The characteristic phenotype may be complicated, mainly due to premature birth, insensible loss and neonatal asphyxia. During the perinatal period IPS can even lead to death. Within two weeks after birth the phenotype becomes significantly milder, developing a lifelong mild ichthyosis and atopic constitution. In this article we describe a newborn girl of consanguineous parents with IPS, determined by DNA diagnostics.