The mechanism behind HIE syndrome is not completely understood. Individuals with the syndrome have an abnormal immune response that produces high levels of immunoglobulin E (IgE) in the blood. Research points to an inherited defect of chromosome 4 as the source of HIE syndrome.
Symptoms
Since in HIE syndrome the body’s immune system has difficulty fighting off infection, there are common symptoms of the disorder, although the particular symptoms may vary among individuals. Some of the symptoms experienced by people with HIE syndrome are:
- Moderate to severe itchy red skin eruptions
- Painless skin abscesses (infections)
- Fungal infections of the mouth (thrush) and nails
- Frequent bronchitis and/or pneumonia
- Fractured bones, which often go unrecognized because of little or no pain
- A curved spine (scoliosis)
- Distinct facial features
Diagnosis
An infant or child who has had many infections would be suspected of having an immune system disorder. To confirm the diagnosis of HIE syndrome, the blood can be tested for high levels of immunoglobulin E. Chest x-rays can reveal lung infections, and examination and blood tests can check for other types of infections.
Treatment
There is no treatment for HIE syndrome itself, so medical care focuses on treatment of any bacterial infections. Intravenous antibiotics are often needed to control infections. Sometimes skin infections may need to be drained or surgically removed. It is important that individuals with HIE syndrome receive regular medical checkups and prompt treatment of infections to prevent serious complications.
Information for this article was taken from:
Tarlow, M. M., & Schwartz, R. A. (2002). Job syndrome. eMedicine, accessed at http://www.emedicine.com/derm/topic845.htm
