Ichthyosis prematurity syndrome

[2] Although most prevalent in individuals of Scandinavian origin, there have also been scattered cases in people of Japanese, Italian and Indian ethnicity.

[1] Triggered by the harsh environment in the uterus, delivery results around 30– 34 weeks of gestation (pregnancy) and the baby is born in prematurely.

[1] After premature delivery, the baby often has neonatal asphyxia from breathing amnionic debris mainly composed of shedding skin cells.

Eosinophils are a kind of a white blood cell which help protect the body from certain infections and involved in allergic responses.

Eosionphelia is an abnormal increase of eosinophils in tissue, blood or both and is present in individuals born with this syndrome.

When the splice site between exons and introns is mutated, it leads to a deletion or duplication event which would change the stability or soundness of the protein the RNA is coding for.

[5] These underlying genetic causes explain the symptoms of the flaky, dry, cutaneous skin phenotype expressed.

The dry skin symptoms can be managed with topical ointments or creams and the individual remains otherwise healthy.

[6] There are no life-threatening complications after the perinatal period (around the time of birth) and the skin conditions persist but to a lesser degree of severity.

[6] Some cases have been found in other ethnicities such as in people of Indian or Japanese descent as well as a north Italian family.