In this particular case the fatty acid transport protein 4 is deformed due to the presence of mutations in the FATP4 gene and an interference occurs in the lipid metabolic pathway in the skin that this protein is involved with.This results in the abnormal formation of epidermal skin cells and a compromised formation and maintenance of an epidermal barrier. These underlying genetic causes explain the symptoms of the flaky, dry, cutaneous skin phenotype expressed.IPS genes segregate independently of the already known general ARCI locus. As a result, IPS has been identified to have its own gene locus making it easier to diagnose. Diagnosis
Diagnosis can be made at birth by identifying the symptoms of the child. Ultrastructural diagnosis where tissues are analyzed is using electron microscopy is also conducted. A specimen of skin is obtained via a skin biopsy and analyzed to see any tell tale characteristics. Genetic testing can also be done to identify the mutation on the FATP4 gene associated with fatty acid synthesis. Genetic consultation through a genetic counsellor is done to determine whether the individual has this syndrome and reduces the chances of misdiagnoses with other cutaneous diseases. Treatment
The infant is intubated post delivery to stabilize the respiratory problems experienced. Often the skin condition becomes less severe resolving itself to flaky dry skin as the individual grows. No intervention is usually required and the condition becomes less severe as the patient grows. The dry skin symptoms can be managed with topical ointments or creams and the individual remains otherwise healthy.
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


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