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.
A ureterovaginal fistula is an abnormal passageway existing between the ureter and the vagina. It presents as urinary incontinence. Its impact on  women is to reduce the "quality of life dramatically." Cause
A ureterovaginal fistula is a result of trauma, infection, pelvic surgery, radiation treatment and therapy, malignancy, or inflammatory bowel disease. Symptoms can be troubling for women especially since some  clinicians delay treatment until inflammation is reduced and stronger tissue has formed. The fistula may develop as a maternal birth injury from a long and protracted labor, long dilation time and expulsion period. Difficult deliveries can create pressure necrosis in the tissue that is being pushed between the head of the infant and the softer tissues of the vagina, ureters, and bladder.Radiographic imaging can assist clinicians in identifying the abnormality. A Ureterovaginal fistula is always indicative of an obstructed kidney necessitating emergency intervention followed later by an elective surgical repair of the fistula. Treatment
Many women delay treatment for decades. Surgeons often will correct the fistula through major gynecological surgery. Newer treatments can include the placement of a stent and is usually successful. In 0.5-2.5% of major pelvic surgeries a ureterovaginal fistula will form, usually weeks later. If the fistula cannot be repaired, the clinician may create a permanent diversion of urine or urostomy. Risks associated with the repair of the fistula are also associated with most other surgical procedures and include the risk of adhesions, disorders of wound healing, infection, ileus, and immobilization.