Rosai Dorfman Syndrome

Rosai Dorfman Syndrome

Rosai -Dorfman syndrome, also known as sinus histiocytosis, is a very rare form of proliferation of activated tissue macrophages (histiocytes) in the sinuses of lymph nodes in the neck area in Europe. The activated histiocytes envelop other immune cells without phagocytising them. The causes of the mostly self-limiting disease, which mainly affects young people between the ages of 15 and 20, have not been sufficiently clarified.

What is Rosai Dorfman Syndrome?

The Rosai-Dorfman syndrome (IBS) or Rosai-Dorfman disease is characterized by an initially unchecked proliferation of activated histiocytes in the sinuses of lymph nodes, predominantly in the head and neck area. Increasingly, healthy erythrocytes and lymphocytes become trapped in the sinuses of the affected lymph nodes by histiocytes without being phagocytosed. For hypomenorrhea definition, please visit electronicsmatter.com.

The enveloped immune cells and erythrocytes remain intact and functional. The process is also referred to as emperipolysis. Parallel to the emperipolesis, there is a strong increase in antibody-producing plasma cells and neutrophilic granulocytes, which are part of the innate immune system, in the sinuses.

The immunophysiological processes in the sinuses of the affected lymph nodes lead to their massive swelling. The name of the disease as Rosai-Dorfman syndrome goes back to the two American pathologists Juan Rosai and Ronald F. Dorfman, who first described the disease in the late 1960s and distinguished it from other diseases.

Causes

The causes of Rosai-Dorfman syndrome are still largely unclear. It is also not clear why there are no statistically significant differences between the male and female population in the frequency distribution and why people with black skin are much more frequently affected by Rosai-Dorfman syndrome.

Familial accumulation, which would provide evidence of a corresponding genetic disposition, has also not been observed to date. Some researchers suspect connections with immunologically relevant viral infections such as EBV or HIV, without such connections being able to be proven.

So far, no justification has been found for the fact that the disease mainly occurs in the neck and head area, but that it also affects the skin, meninges, upper respiratory tract, parotid glands, bone marrow and female mammary glands in about 40 to 50 percent of cases can. Involvement of the bones, cartilage and soft tissues outside of the lymph nodes (extranodal) can lead to erosion in the affected tissue.

Symptoms, Ailments & Signs

The Rosai-Dorfman syndrome initially announces itself with non-specific symptoms such as pronounced swelling of the lymph nodes (lymphadenitis) and similar symptoms. In addition, the disease can be accompanied by fever, and patients experience weight loss.

If the upper respiratory tract is affected, dyspnea and breathing noises (stridor) can occur. Cases have also been reported in which the eye socket (orbit) and the eyelids were affected, resulting in drooping eyelids (ptosis) and, in isolated cases, visual disturbances.

Diagnosis & course of disease

Meaningful and reliable diagnosis of the presence of Rosai-Dorfman syndrome is mainly based on various laboratory values. The blood sedimentation rate is increased and there is a pathologically increased concentration of certain monoclonal antibodies of the gamma serum proteins.

The main clue, however, lies in the emperiolysis, the demonstration that histiocytes in the affected lymph nodes envelop other immune cells without phagocytising them. The course of the disease is usually benign and self-limiting. This means that spontaneous regression and healing can occur despite tissue damage that can sometimes be observed and recurrences that occur. Nevertheless, the death rate, which is given at around seven percent, is relatively high.

Complications

Unfortunately, the symptoms of Rosai-Dorfman syndrome are not particularly characteristic, so that in many cases the disease is diagnosed late. For this reason, early treatment is usually not possible. Those affected primarily suffer from a high fever and also from severely swollen lymph nodes. There is a general feeling of weakness and severe tiredness and exhaustion.

Weight loss can also occur that cannot be attributed to special circumstances. The patient’s quality of life is significantly reduced due to Rosai-Dorfman syndrome. The airways are also weakened, which can lead to severe breathing difficulties. In the further course, visual disturbances also occur and, in the worst case, those affected can go completely blind.

Unfortunately, a direct and causal treatment of Rosai-Dorfman syndrome is not possible. There are no special complications in the treatment of symptoms. However, it is not possible to limit all symptoms in every case. However, drugs and various therapies are usually used. It is not possible to predict whether the patient’s life expectancy will be reduced.

When should you go to the doctor?

Rosai-Dorfman syndrome only affects adolescents between the ages of 15 and 20. It leads to sinus histiocytosis as well as massive swelling of the lymph nodes that are affected. A visit to the doctor should be sought for Rosai-Dorfman syndrome when an adolescent suddenly suffers from massively swollen lymph nodes, unexplained weight loss, fever or wheezing. In addition, Rosai-Dorfman syndrome can lead to tissue growths in the neck and head area.

Often, however, the Rosai-Dorfman syndrome also has sequelae on the skin, the upper respiratory tract, the meninges, the bone marrow or the parotid glands. The female mammary gland can also be affected. If the bones and cartilage and soft tissues outside the lymph nodes are affected, tissue damage can occur.

A visit to the doctor is advisable if you have the symptoms mentioned because about seven percent of those affected die from Rosai-Dorfman syndrome. In other cases, the symptoms may disappear spontaneously. On the other hand, recurrences and an increased risk of blindness or permanent tissue damage can also occur in Rosai-Dorfman syndrome.

Treatment & Therapy

Because the causes of Rosai-Dorfman syndrome are not known, a targeted fight against the causes is hardly possible. In many cases where spontaneous resolution occurs due to the self-limiting course of the disease, no treatment is required. In the remaining cases, the use of cytostatic agents can be considered.

Most are corticosteroids, which are administered to stop the progression of the disease. This type of therapy is particularly indicated in the approximately 40 percent of cases in which there is an extranodal involvement, i.e. an involvement of tissue outside the lymph nodes.

If the hoped-for healing success does not occur with the administered cortisone and severely swollen lymph nodes cause problems, for example because they make breathing difficult or have other serious effects due to space requirements, a carefully put together combination chemotherapy or radiation therapy may also be indicated in individual cases.

If an isolated infestation of the bones, cartilage or other tissue has been diagnosed, an imminent progression of the disease can be stopped by surgical intervention. The diseased tissue is removed surgically or with minimally invasive methods. As a rule, the affected lymph nodes are then also removed to avoid recurrences. In addition, general, immune-boosting and metabolism-boosting measures are indicated.

Prevention

The Rosai-Dorfman syndrome is not only rare in Europe, but also manifests itself initially through rather unspecific symptoms such as lymphadenopathies and fever as well as abnormal laboratory values ​​that indicate an inflammation. It is therefore likely that the symptoms are not automatically associated with the presence of Rosai-Dorfman syndrome.

Since there is no clarity about the cause of the disease and one can only speculate, there are no direct preventive measures that could be recommended to prevent Rosai-Dorfman syndrome. If it is true that viral infections are responsible for the onset of the disease, all immune-enhancing measures and behaviors can be considered preventative.

Aftercare

In the case of Rosai-Dorfman syndrome, it is important that those affected go to the follow-up examinations, otherwise blindness or death can result. Affected people can do a lot to ensure that their quality of life does not suffer from the disease afterwards. Weight loss caused by the disease should be eliminated with a balanced diet.

The way of life should be changed drastically. Especially since they are mainly young people. Avoiding alcohol and nicotine is very important in the disease. Those affected should also exercise to strengthen their immune system. The social environment should be extremely well maintained. Activities that those affected liked to undertake before the illness should be done with social contacts. This greatly improves the quality of life.

If those affected cannot cope with the disease, it is advisable to undergo permanent psychological counseling. A psychologist can help those affected to put life back in the right direction. Visiting a self-help group is also recommended. There, those affected can exchange ideas with those who are also ill and compare their lifestyles. This can also help to live with the disease.

You can do that yourself

Since no triggering causes for this disease are known, only the individual symptoms can be treated medically. It may be a consolation for the mostly young patients that the disease often heals spontaneously by itself. Until then, however, they should seek regular medical attention, as Rosai-Dorfman syndrome can also have serious consequences for them, possibly leading to blindness or even death.

Regardless of the medical measures, the patients themselves can contribute a lot to their recovery or at least to maintaining their quality of life. On the one hand, patients should take care to compensate for any weight loss that may have occurred. Since the patients are usually under twenty years old, they are not yet fully grown and have an increased calorie requirement compared to adults. This should be covered with healthy, fresh food that contains enough carbohydrates, healthy fats and lots of vitamins. Wholemeal bread, potatoes, vegetables, fruit, nuts and seeds as well as oils containing omega-3 such as linseed oil should therefore be on the menu.

In the fight against Rosai-Dorfman syndrome, everything that strengthens the immune system in addition to conscious nutrition is helpful. Alcohol and nicotine are taboo and the patient should also refrain from an excessive lifestyle, which is otherwise common for young people. Instead, sufficient sleep and plenty of exercise in the fresh air are advisable.

Rosai Dorfman Syndrome