Job’s syndrome was first mentioned in a publication in 1966. Since then, science has been researching the trigger and to this day has not been able to produce any conclusive results.
What is Job Syndrome?
According to abbreviationfinder.org, this syndrome is named after Job, a man from the Bible. The synonym Buckley syndrome, which is also frequently used, has existed since 1972. At that time it was Mr. Buckley who summarized the results from the observation of a number of patients and described them in a publication.
Since only certain genes are affected and the symptoms can occur throughout the body, Job’s syndrome is also referred to as a multisystem disease. Genetically determined and also chronic, there is a high level of suffering among those affected. The first signs of the disease can appear just a few days after birth.
In the specialist literature, the term is Hyper-IgE Syndrome or HIES. The reason lies in an increased concentration of immunoglobulin E, which can be seen in blood tests. However, this high accumulation alone is not considered a trigger for symptoms.
Causes
There are no external causes for the disease. It is a genetic defect that only allows the formation of protein to a limited extent or not at all. Not all parts of the body are affected and the symptoms of the disease also vary. The fact is that genes whose task is to control the body’s defense cells are responsible.
So far, researchers have only been able to identify one gene and it is STAT-3. It is significantly involved in the formation of defense mechanisms in the lungs and on the skin. In addition, it ensures an effective fight against inflammation via the bloodstream. There are families where Job’s syndrome occurs frequently and is to be regarded as a hereditary disease. In other cases, only one family member is affected. A fetus will only develop the disease if both parents carry the defective gene.
Symptoms, Ailments & Signs
Frequent complaints are permanently recurring inflammations with the formation of abscesses. They appear on the skin and in the soft tissues. Pneumonia can also be observed frequently, as can skin diseases such as those that occur in neurodermatitis.
In the course of the disease, pneumonias show the formation of cyst-like cavities in the lungs. This means that their functionality is limited. The fact that even infants suffer from itchy and weeping eczema shows how serious the disease is. There is often a pronounced cradle cap, which means an additional burden for the little ones. In addition to these symptoms, there are also changes in the connective tissue.
The first teeth may not fall out or the face may show abnormalities. The forehead is heavily accentuated and the skin is noticeably open-pored. Abscesses in the lymph nodes and in the liver are also mentioned as usual signs. Patients often have broken bones, mostly affecting long bones and ribs. A curvature of the spine ( scoliosis ) occurs in about 20 percent of those affected.
Diagnosis & disease progression
A HIES score was developed to make diagnosis easier for physicians. This is a scale on which the patient’s symptoms are recorded. Using a point system, the doctor is then able to make a reliable diagnosis. A blood test can detect changes in the STAT-3 gene. It is particularly important here that other chronic diseases, such as cystic fibrosis, are ruled out.
Complications
Job’s syndrome causes inflammation in various parts of the body. These can make everyday life more difficult for those affected and, in the worst case, even lead to death. Since the inflammation can develop in different places, the complications cannot be predicted in general.
The affected person regularly suffers from pneumonia, which can lead to severe breathing difficulties and, if left untreated, to death. Furthermore, simplified bone fractures occur and the person concerned feels sick and weak. Scoliosis is also not uncommon. The affected person also suffers from malformations in the face, so that the forehead, for example, is relatively heavily emphasized.
This can lead to aesthetic limitations in the patient, which can lead to depression or other psychological problems. It is not uncommon for children in particular to suffer from bullying and teasing. Job’s syndrome cannot be treated causally, so that only symptomatic treatment is possible.
Although there are no particular complications, the person concerned is dependent on many treatments and visits to the doctor, which can also result in psychological problems. Cosmetic complaints can usually be treated with the help of surgical interventions.
When should you go to the doctor?
If there are recurrent abscesses, swelling, or skin bleeding, a doctor must be consulted. Medical advice is required at the latest when the symptoms increase in intensity or other symptoms appear. Signs of neurodermatitis should be clarified immediately by a doctor. Job’s syndrome manifests itself through non-specific symptoms, which is why it cannot be diagnosed by those affected themselves. That is why you should go to the family doctor immediately if you have the symptoms mentioned.
Parents who suffer from Job’s syndrome themselves or who have cases of the disease in their relatives should have their child examined after birth. Ideally, the disease is recognized in the womb. Children suffering from the rare genetic disease always require comprehensive medical supervision and treatment. Parents should seek professional advice if they have unusual symptoms and, if in doubt, go to the nearest specialist clinic. In the case of serious complications such as pneumonia or broken bones, the affected child must be treated immediately in a hospital.
Treatment & Therapy
To date, treatment has consisted primarily of prevention. There are no drugs to combat it. Prophylaxis includes regular inhalations followed by tapping of the lungs. In this way, even babies cough up well and the risk of infection is reduced.
For children whose milk teeth are not falling out, it is important to have them extracted. Otherwise there is a risk that the permanent teeth will not grow back normally. In the meantime, there is the approach that infusions with antibodies are administered. To keep complications from eczema low, skin care is very important. Ointment that kills fungi and moisturizing creams should be applied several times a day. From time to time, treatment with cortisone ointments is unavoidable.
Spinal curvatures often show up with a pelvic tilt. Here prevention means that those affected compensate for the deficiency with insoles or increased heels and the risk of scoliosis is reduced. Regular monitoring by specially trained doctors is important.
Only they can judge when antibiotic therapy or surgical intervention (opening an abscess) is necessary. Since there is an increased risk of lymph node cancer in patients, regular check-ups are also a priority here.
Outlook & Forecast
As a hereditary disease, Job’s syndrome cannot be cured. However, the symptoms are treatable. With good care and early detection of the disease, patients can live from an early age to around 50 years of age. However, an accurate prognosis can only be given by the attending physician who knows the patient and the course of the disease. If no or only minor complications occur and the airways are largely spared, Job’s syndrome has a very good prognosis and the quality of life of those affected is also only slightly restricted.
If late complications occur in old age, these have a negative effect on the prognosis and, depending on the patient’s state of health and the severity of the complication, can lead to death in the worst case. If, for example, a malignant lymphoma occurs as a result of Job’s syndrome, the prognosis depends on the stage and spread of the lymphoma, with the patient’s lifespan usually being considerably shortened by such a late complication.
The anomalies of the teeth, which are typical of Job’s syndrome, can also have a negative effect on the prognosis, which can prevent the affected person from eating enough and with pleasure. Especially when the general condition deteriorates again, some of those affected refuse to eat and of course do not contribute to the rapid improvement of their condition. Especially in such complex cases, good care can have a significant impact on the prognosis.
Prevention
Since Job’s syndrome is not caused by external influences, there are no preventive measures. For young people who want to start a family, there are laboratories that carry out genetic diagnostics. This means that those concerned have their blood analyzed. This measure is important if Job’s syndrome ran in the family. Prenatal diagnosis is then also possible.
As with all autoimmune diseases caused by genetic defects, it is unfortunately the case that these only become visible after birth. Parents of a sick child should no longer have offspring. The danger is too great that he too is affected. The fatality of the disease is reflected in the fact that new mutations occur again and again in the genes. This is probably the reason why there is no vaccine against Job’s syndrome.
Aftercare
In the case of Job’s syndrome, the aftercare measures are severely limited. Since it is a congenital and therefore genetic disease, the syndrome cannot be completely cured. If the affected person wishes to have children, a genetic test and counseling is recommended to prevent the disease from reoccurring.
In general, early diagnosis of Job’s syndrome has a very positive effect on the further course of the disease. This disease is usually treated by taking medication and using creams. It is important to ensure correct and regular intake and application, whereby if you have any questions or are unclear, you should always consult a doctor first.
In the case of side effects and other interactions, you should always contact a doctor first. If Job’s syndrome is treated with the help of antibiotics, the person concerned should ensure that they are not taken together with alcohol. A healthy lifestyle with a healthy diet also has a positive effect on the course of this disease. In many cases, regular check-ups by a doctor are necessary to prevent other complications.
You can do that yourself
With Job’s syndrome, those affected must pay attention to a few things in order to alleviate the symptoms and avoid possible complications. Since Job’s syndrome prevents the milk teeth from falling out in most cases, they have to be extracted in children. As a rule, this process is not associated with pain and can allow the normal growth of the teeth.
Strict skin care is also necessary with Job’s syndrome to avoid infection and inflammation. The hygiene standards should be observed and various creams or ointments should be used. Immediate treatment is particularly important for fungal infections. Since patients often suffer from broken bones as a result of the disease, a number of injuries must be prevented. For this reason, dangerous sports should not be performed. Unfortunately, Job’s syndrome can also significantly increase the risk of lymph node cancer, so that those affected are dependent on regular examinations to avoid a reduced life expectancy. However, a doctor should always be consulted for infections of the lungs.
Parents in particular should have regular check-ups with various specialists when their child develops Job’s syndrome in order to limit the symptoms and symptoms of this disease.
