Rosai-Dorfman syndrome, also referred to purposefully as sinus histiocytosis, is a form of proliferation of activated tissue macrophages (histiocytes) in the sinuses of lymph nodes in the neck region that occurs very rarely in Europe. The activated histiocytes envelop other immune cells without phagocytosing them. The causes of the usually self-limiting disease, which mainly affects adolescents aged 15 to 20 years, are not well understood.
What is Rosai-Dorfman syndrome?
Rosai-Dorfman syndrome (RDS) 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. There is increased entrapment of healthy erythrocytes and lymphocytes by the histiocytes in the sinuses of affected lymph nodes without phagocytosis. The enveloped immune cells and erythrocytes remain intact and functional. The process is also referred to as emperipolesis. In parallel with emperipolesis, there is a simultaneous proliferation in the sinuses of antibody-producing plasma cells and neutrophil granulocytes, which are part of the innate immune system. The immunophysiological processes in the sinuses of the affected lymph nodes lead to their massive swelling. The disease is named Rosai-Dorfman syndrome after Juan Rosai and Ronald F. Dorfman, two U.S. pathologists who first described the condition 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 statistically no significant differences between the male and female populations in the frequency distribution and why people with black skin color are far more likely to be affected by Rosai-Dorfman syndrome. A familial clustering, which would provide evidence for a corresponding genetic disposition, has also not yet been observed. Some researchers suspect connections with immunologically relevant viral infections such as EBV or HIV, without such connections being proven so far. Nor has any justification yet been found for the fact that the disease occurs predominantly in the neck and head region, but that it can also affect the skin, meninges, upper respiratory tract, as well as parotid glands, bone marrow and female mammary glands in about 40 to 50 percent of cases. Infestation of the bones, cartilage, and soft tissues outside the lymph nodes (extranodal) can lead to erosions in the affected tissue.
Symptoms, complaints, and signs
Rosai-Dorfman syndrome initially announces itself with nonspecific symptoms such as marked swelling of the lymph nodes (lymphadenitis) and similar symptoms. In addition, the disease may be accompanied by fever, and patients suffer from weight loss. If the upper respiratory tract is affected, dyspnea and breath sounds (stridor) may develop. Cases have also been reported in which the orbit and eyelids were affected, resulting in drooping eyelids (ptosis) and, in isolated cases, visual disturbances.
Diagnosis and course of the disease
Meaningful and reliable diagnosis for the presence of Rosai-Dorfman syndrome is mainly made by various laboratory values. The erythrocyte sedimentation rate is increased, and a pathologically elevated concentration of certain gamma serum protein monoclonal antibodies is seen. However, the main clue lies in emperipolesis, the demonstration that histiocytes in the affected lymph nodes envelop other immune cells without phagocytosing them. The course of the disease is usually benign and self-limiting. This means that spontaneous regressions and cures may occur despite tissue damage and recurrences occurring in some cases. Nevertheless, the death rate, which is reported to be approximately seven percent, is relatively high.
Complications
Unfortunately, the symptoms of Rosai-Dorfman syndrome are not particularly characteristic, so in many cases the disease is diagnosed late. For this reason, early treatment is also 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 fatigue and exhaustion.Weight loss may also occur, which cannot be attributed to special circumstances. The patient’s quality of life is significantly reduced due to Rosai-Dorfman syndrome. The respiratory tract is also weakened, so that severe breathing difficulties may occur. In the further course, visual disturbances also occur and, in the worst case, the affected person can go completely blind. Unfortunately, a direct and causal treatment of Rosai-Dorfman syndrome is not possible. No particular complications occur during the treatment of the symptoms. However, limiting all symptoms is not possible in every case. However, medications and various therapies are usually used. It cannot be predicted whether the patient will have a limited life expectancy.
When should one go to the doctor?
Rosai-Dorfman syndrome affects only adolescents between 15 and 20 years of age. It results in sinus histiocytosis as well as massive swelling of the lymph nodes that are affected. Medical attention should be sought for Rosai-Dorfman syndrome if a teenager suddenly suffers from massively swollen lymph nodes, unexplained weight loss, fever or breathing sounds. In addition, Rosai-Dorfman syndrome can lead to tissue growths in the neck and head. However, secondary symptoms of Rosai-Dorfman syndrome often include skin, upper respiratory tract, meninges, bone marrow, or parotid glands. The female mammary gland can also be affected. If the bones and cartilage as well as soft tissues lying outside the lymph nodes are affected, tissue damage may occur. A visit to the doctor is advisable in the case of the above-mentioned symptoms, if only because about seven percent of those affected die from Rosai-Dorfman syndrome. In other cases, symptoms may disappear spontaneously. On the other hand, Rosai-Dorfman syndrome may also cause recurrences and increased risks of blindness or permanent tissue damage.
Treatment and therapy
Because the causes of Rosai-Dorfman syndrome are unknown, it is almost impossible to target the cause. In many cases in which spontaneous cures occur because of the self-limiting course of the disease, no treatment is required. In the remaining cases, the use of cytostatic agents can be considered. In most cases, these are corticosteroids, which are administered to halt the course of the disease. This type of therapy is particularly indicated in the approximately 40 percent of cases in which there is extranodal involvement, i.e., involvement of tissue outside the lymph nodes. If the cortisone administered does not bring about the hoped-for healing success and severely swollen lymph nodes cause problems because, for example, they make breathing difficult or have other serious effects due to spatial stress, a carefully composed combination chemotherapy or radiation therapy may also be indicated in individual cases. If an isolated affection of the bones, cartilage or other tissues has been diagnosed, an imminent progression of the disease can possibly be stopped by surgical intervention. The diseased tissue is removed surgically or using minimally invasive methods. As a rule, the affected lymph nodes are then also removed to prevent recurrences. In addition, general immunostrengthening and metabolism-building measures are indicated.
Prevention
Rosai-Dorfman syndrome is not only rare in Europe, but is also initially manifested by rather nonspecific symptoms such as lymphadenopathies and fever, as well as laboratory abnormalities suggestive of inflammation. It is therefore likely that the signs of the disease are not associated a priori with the presence of Rosai-Dorfman syndrome. Since there is also no clarity about the causation of the disease and it can only be speculated, there are also no directly 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-boosting measures and behaviors can be considered preventive.
Follow-up
With Rosai-Dorfman syndrome, it is important for affected individuals to attend follow-up appointments, otherwise blindness or even death may result. Affected individuals can do much to ensure that their quality of life does not suffer from the disease after the fact.The weight loss caused by the disease should be eliminated by a balanced diet. The way of life should be changed greatly. Especially since it is mainly young people. Abstaining from alcohol and niction is very important in the disease. Affected people should also exercise to strengthen their immune system. The social environment should be extremely cultivated. Activities that were enjoyed by sufferers before the disease should be done with social contacts. This will extremely improve the quality of life. If sufferers are unable to cope with the disease, it is recommended that they undergo permanent psychological counseling. A psychologist can help sufferers get their lives back on track. In addition, attendance at a self-help group is recommended. There, sufferers can exchange information with others who also suffer from the disease and compare lifestyles. This can also help to live with the disease.
What you can do yourself
Since no triggering causes for this disease are known, only the individual symptoms can be treated medically. It may be a comfort to the mostly adolescent patients that the disease often heals spontaneously on its own. Until then, however, they should seek regular medical treatment, as Rosai-Dorfman syndrome can also have serious consequences for them, possibly leading to blindness or even death. Independent of the medical measures, the patients themselves can contribute a lot to their recovery or at least to maintaining their quality of life. For one thing, patients should take care to compensate for any weight loss that may have occurred. Since patients are usually under twenty years of age, they are not yet fully grown and have an increased calorie requirement compared to adults. This should be met with the healthiest, freshest foods possible, which contain sufficient carbohydrates, healthy fats and many vitamins. The menu should therefore include wholemeal bread, potatoes, vegetables, fruit, nuts and seeds, as well as omega-3-containing oils such as linseed oil. In the fight against Rosai-Dorfman syndrome, everything that strengthens the immune system in addition to a conscious diet 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.
