Ross syndrome is a symptomatic complex of sweat secretion, pathological pupil contractions, and decreased muscle reflexes. Probably the cause lies in the autonomic nervous system and is connected with potganglionären neurons of the sympathetic and parasympathetic. Affected individuals have to stay away from high temperatures and extreme physical exertion for life due to the reduced heat tolerance.

What is Ross Syndrome?

A symptom of Ross syndrome is sweat secretion, which makes it difficult for the body to cool down. If the body begins to overheat, the patient will be advised to cool wet compresses. These envelopes mimic sweat secretion and provide for the lack of evaporation cold.

The sweat glands take over in the human body, especially within the thermoregulation a crucial task. When threatened overheating but they sweat, which dries by the ambient air on the skin and provides for evaporative cooling. The more sweat, the sooner the body cools down again.

In addition to these functions, sweat acts as an anti-microbial acid mantle and thus protects the skin. In case of a failure of the sweat glands the organism thus lacks important abilities. Inability to produce sweat or secretion is referred to in medical literature as anhidrosis. Different diseases can cause anhidrosis.

One is Ross syndrome, also known as familial anhidrosis or anhidrosis syndrome. The complex of symptoms was first described in 1958. The first describer is AT Ross, who has left his name to the syndrome. Ross syndrome is a highly rare genetic disease. Since the first description, not even 50 cases have been documented. In addition to unusual sweat secretion, the syndrome is characterized by a loss of muscle reflexes.

causes

The causes of Ross syndrome have not yet been conclusively clarified. Scientists and physicians now know, however, that the Ross syndrome corresponds to a genetic disease. Familial accumulation was observed in the cases documented so far.

It has been speculated that abnormally low sweat production and pathological pupil contractions in patients are due to dysregulation within the autonomic nervous system. The genesis of this dysregulation is not clear. The postganglionic neurons of the sympathetic and parasympathetic nervous system are probably the cause of the disease.

The distribution and density of the sweat gland corresponds to the physiological anatomy. However, the connection with the failure of all muscle reflexes is problematic to explain. The exact relations between the individual symptoms remain until now the subject of wild speculation. Since the Ross syndrome has only been observed about 20 times so far, the research material is limited.

Symptoms, complaints & signs

The most symptomatic symptom of Ross syndrome is the one-sided and fetal loss of sweat secretion. In addition to this anhidrosis is pupillotonia in the sense of pathological Puillenkontraktionen ago. The skeletal muscle shows diminished reflex capability. Due to the sweat secretion disorder, patients have a reduced heat tolerance.

In addition, anhidrosis often results in a counterreactive hyperhidrosis of the other side of the body. In addition to these leading symptoms, side effects such as irritable bowel syndrome and orthostatic hypotension can be observed. The former phenomenon is irritable bowel syndrome.

The orthostatic hypertonia in turn manifests itself in blood pressure disorders in the erection of the body. Apart from these symptoms, some patients suffer from fainting attacks in the form of vasovagal syncope and difficulty breathing in the form of dyspnoea. In addition, headaches and heartburn are common.

Diagnosis & disease course

The diagnosis of Ross syndrome is in most cases made relatively late after birth. The number of unreported cases may be high in the case of this disease. Patients usually go to the doctor for the disturbing fainting attacks.

If suspected, the doctor can prove the present sweat secretion disorder by secretion tests. The constellation of symptoms is relatively specific in Ross syndrome. Therefore, the diagnosis can be made purely clinically.

Diagnostic steps are not yet available because the primary cause is not known at the present time. However, the clinical picture is enough, at least for a very probable diagnosis. Although the disease is not curable so far, however, there is no life-threatening condition as long as the patients comply with the supportive measures.

complications

First and foremost, those affected in Ross syndrome can no longer eliminate sweat. This failure of the secretion usually occurs only on one side and is accompanied by a contraction of the pupils, so it can also lead to vision problems. The overall reflex ability of the patient is also reduced in the Ross syndrome and those affected can no longer tolerate mild heat.

It can also lead to a loss of consciousness or to fainting. Furthermore, it also leads to dehydration and in the course of the disease also irritable bowel syndrome. Patients often suffer from abdominal pain, diarrhea or even flatulence. The quality of life of the person affected is significantly reduced and reduced by the Ross syndrome.

The condition also causes blood pressure disturbances, so patients often experience dizziness or difficulty breathing. Also, heartburn or severe headache can occur. Unfortunately, the Ross syndrome can not be cured. Some of the complaints can be restricted with the help of medication. A permanent cooling is necessary for this syndrome. Whether Ross's syndrome reduces life expectancy can not generally be predicted.

When should you go to the doctor?

Since the Ross syndrome is a hereditary disease that can be treated only symptomatically and not causally, a doctor must be consulted in any case with this disease. An independent cure does not occur in Ross syndrome. If the affected person has a desire to have children, genetic counseling can also be carried out in order to prevent the inheritance of the syndrome to children.

A doctor should be consulted if the person suffering from severe overheating of the body. In this case, sweat can hardly be eliminated, so that the affected person is always warm and can not cool down. Often the patients appear stressed or slightly aggressive. In some cases, disorders of blood pressure or even fainting indicate Ross syndrome and must be investigated if they occur without any particular reason.

In the first place, a general practitioner can be consulted to diagnose the Ross syndrome. The further treatment will be done by a specialist. Whether a complete cure is achieved can not generally be predicted.

Treatment & Therapy

The Ross syndrome is so far incurable. The exact genesis and causal relationships of the symptom complex remain unclear. For this reason, there is no causal therapy. Causal therapies correspond to causal therapies.

By eliminating the cause, such treatments are able to cure a disease in the long run. Symptomatic therapies are not able to do this. Although these approaches alleviate the symptoms, they do not eliminate the causes. Thus, symptomatic therapies are merely suppressive and can not achieve lasting improvement in symptoms.

In the case of Ross syndrome, long-term treatment mainly consists of supportive therapy steps. In case of acute overheating due to anhidrosis, symptomatic treatment may be required. Also symptomatic therapy steps are available against the hyperhidrosis of the secretory body side, for example treatments with Botox or aluminum chloride.

The supportive therapy focuses mainly on avoiding overheating. High temperatures and extreme physical exertion pose a risk of overheating for patients with Ross syndrome. Therefore, physicians instruct those affected to avoid extreme physical activity and stay in hotter areas.

If the body begins to overheat, the patient will be advised to cool wet compresses. These envelopes mimic sweat secretion and provide for the lack of evaporation cold. The consumption of cold drinks or the application of ice cubes can promise improvement in acute cases.

prevention

Preventive measures in the context of Ross syndrome do not yet exist. Since the primary causes and the genesis of the complex are unknown, preventive steps are not expected in the foreseeable future. Due to the low number of cases, the cause research will probably take several decades to complete.

aftercare

In Ross syndrome, the options and the measures of a direct follow-up are in most cases clearly limited, although in some cases they are not even available to the person concerned. Therefore, the person should ideally go to a doctor very early and also initiate treatment to prevent the occurrence of other complaints and complications.

It often can not come to a self-healing, so the person concerned is dependent on the treatment of a doctor and should consult him at the first sign. Most sufferers in this disease depend on various surgical procedures, with which the complaints and malformations can usually be well alleviated.

In this case, sufferers should definitely rest and look after the procedure. Physical exertion or stressful activities are foreseen in order not to burden the body unnecessarily. First and foremost, medicines must be discontinued that promote the symptoms. However, the discontinuation of the medication should be done only with a doctor's consent. Likewise, during the treatment, regular checks by a doctor are very important in order to detect and treat further damage to the body at an early stage.

You can do that yourself

Ross Syndrome is an incurable disease. Affected individuals must first and foremost follow supportive therapy. Depending on the severity of the condition, this includes drug treatment, physiotherapy and other measures. The physical training can be done at home. Affected children should be encouraged in their endeavors to continue to take preventive and supportive measures in adulthood.

In case of acute overheating, the emergency doctor must be called immediately. The patient should quickly move into the shade and cool off well. If necessary, emergency medications must be taken. If there is a circulatory collapse, the first aiders must quickly provide first aid. The anhidrosis itself can not be treated causally. The self-help measures focus on preventing overheating of the body. This is achieved by the patient avoiding activities that promote perspiration. Various drugs inhibit sweat production. They should be taken as prescribed by the doctor.

Since the suffering is usually also mentally stressful, an accompanying therapy can be useful. As part of a self-help group, the patients get to know other people affected and can thus better understand the disease.

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