Ichthyosis prematurity syndrome

Ichthyosis prematurity syndrome is a rare dermatological disease with known genetic causes and a subcategory of autosomal recessive congenital ichthyosis, also called ichthyosis congenital type IV. Affected pregnancies are complicated by excess amniotic fluid made opaque by shed skin cells, and delivery usually comes at about 30 to 34 weeks of gestation. The newborn is covered with a thick white caseous layer of scaly skin, has red peeling skin, and often has breathing difficulty from inhaling amniotic debris, together with a raised eosinophil count. The syndrome is caused by mutations in the FATP4 gene, also known as SLC27A4, which codes for fatty acid transport protein 4, and it is inherited in an autosomal recessive way. It is most common in people of Scandinavian origin, especially in the middle of Norway and Sweden. After the newborn period the skin improves to dry flaky skin that can be managed with topical creams, and the prognosis is favourable.