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.
In addition to its helpful effects in treating AU, it can have side effects that can be very serious, such as severe dermatitis.Topical and intralesional corticosteroids, such as clobetasol propionate, have also shown to be an effective treatment for AT and AU patients. A controlled study comprising 28 patients found positive terminal hair growth in eight of the patients (28.5%) using a 0.05% clobetasol propionate ointment. This is very similar to the results obtained from immunotherapy treatment trials. Additionally, studies suggest that intralesional applications are much more effective than topical applications of steroids. However, the main side effect is increased risk of cutaneous atrophy at the site of treatment; folliculitis is also an occasional complication.Janus kinase inhibitors, previously used in the treatment of cancer and other diseases, such as arthritis, have successfully shown to be effective in the initial trials of treatment for alopecia patients. Multiple cases of treatments have been successful, one of them being of a 22-year-old man with a history of AU and atopic dermatitis (AD). This man was treated with JAK inhibitor tofacitinib, and after ten months, he experienced hair regrowth on all of his affected body parts and subsequent improvement of his AD. Current research and findings suggest that systemic JAK inhibitors eliminate and prevent the development of AA, while topical JAK inhibitors promote hair regrowth and reverse the established disease. Many clinical trials are ongoing involving JAK inhibitors such as ruxolitinib and tofacitinib. See also
Alopecia areata
Alopecia totalis

References


== External links ==