Eosinophilia
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. Genetics
Mode of inheritance
This rare syndrome is associated with an autosomal recessive mode of inheritance. The parents are classified as heterozygote carriers of the disease and the chance that the offspring will be affected is 25%. Both parents need to have the mutant allele in order to pass on the disease to their offspring and the offspring need to inherit both mutant alleles in order to express the disorder. Genetic cause
IPS is caused by a number of mutations at different loci of the FATP4 gene. One nonsense mutation and a number of missense mutation in the FATP4 (SLC27A4) gene which codes for the fatty acid transport protein 4 are associated with IPS. Splice site mutations have also been linked to IPS. 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. When a mutation is present in the gene coding for this protein, the protein product is not stable or able to perform its role. As a result, the pathway it is involved in is compromised and a diseased phenotype is often noted.
Prognosis
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. Individuals have a favourable prognosis as symptoms can be managed and past the infancy stage are not life-threatening. The red skin edema improves after a three-week period but the ichthyosis scaling persists. Asthma has been recorded in some cases later on in the individuals life and sign of atopic dermatitis persist, follicular hyperkeratosis and small amounts of scaling at the scalp that goes on into adulthood but otherwise the individual continues a healthy life. Epidemiology
Frequencies of this disease are the greatest in Norway with a few Finnish cases have also having been noted to date. Some cases have been found in other ethnicities such as in people of Indian or Japanese descent as well as a north Italian family. These cases are scattered and there are potentially more under reported cases as this disease is often under diagnosed for other cutaneous diseases. It is most prevalent in a defined region in the middle of Norway and Sweden with a heterozygote carrier frequency of 1 in 50. References


== External links ==