Ross syndrome corresponds to a symptomatic complex of inability to secrete sweat, pathological pupillary contractions and reduced muscle reflexes. The cause probably lies in the autonomic nervous system and is related to potganglionic neurons of the sympathetic and parasympathetic nervous system. Those affected have to stay away from high temperatures and extreme physical exertion for life because of their reduced heat tolerance.
What is Ross Syndrome?
The sweat glands take on a crucial task in the human body, especially within thermoregulation. If there is a risk of overheating, they secrete perspiration, which dries on the skin due to the ambient air and provides evaporation cooling. The more you sweat, the sooner the body cools down again. For hyperhydration definition, please visit electronicsmatter.com.
In addition to these functions, sweat acts as an antimicrobial acid mantle and thus protects the skin. If the sweat glands fail, the organism therefore lacks important abilities. The inability to produce or secrete sweat is referred to in the medical literature as anhidrosis. Various diseases can cause anhidrosis.
One of them is Ross syndrome, also known as familial anhidrosis or anhidrosis syndrome. The complex of symptoms was first described in 1958. AT Ross, who gave the syndrome his name, is considered to be the first to describe it. Ross syndrome is an extremely rare genetic disorder. Not even 50 cases have been documented since the first description. In addition to a lack of sweat secretion, the syndrome is characterized by a failure of the muscle’s own reflexes.
Causes
The causes of Ross syndrome have not yet been finally clarified. However, scientists and physicians now know that Ross syndrome corresponds to a genetic disease. Familial accumulation has been observed in the cases documented so far.
It is speculated that the patients’ abnormally low sweat production and pathological pupillary contractions are due to dysregulation within the autonomic nervous system. However, the genesis of this dysregulation is not clear. The sympathetic and parasympathetic postganglionic neurons are thought to be the root cause of the disease.
The distribution and density of the sweat glands corresponds to the physiologically intended anatomy. However, the connection with the loss of all muscle reflexes is difficult to explain. The exact relationships between the individual symptoms remain the subject of wildest speculation to this day. Since Ross syndrome has only been reported about 20 times so far, the research material is limited.
Symptoms, Ailments & Signs
The main symptom of patients with Ross syndrome is the mostly one-sided loss of sweat secretion close to the trunk. In addition to this anhidrosis, there is pupillotonia in the sense of pathological pupil contractions. The skeletal muscles show reduced reflex ability. Due to the sweat secretion disorder, the patients have a reduced heat tolerance.
In addition, anhidrosis often leads to counter-reactive hyperhidrosis on the other side of the body. In addition to these key symptoms, side effects such as irritable colon and orthostatic hypotension can be observed. The former phenomenon is irritable bowel syndrome.
Orthostatic hyptension in turn manifests itself in blood pressure disorders when the body is straightened. Apart from these symptoms, some patients suffer from fainting attacks in terms of vasovagal syncope and breathing difficulties in the form of dyspnea. Headaches and heartburn are also common.
Diagnosis & course of disease
In most cases, the diagnosis of Ross syndrome is made relatively late after birth. The number of unreported cases of this disease may be high. Patients seek medical attention in most cases because of the troubling fainting spells.
If there is a suspicion, the doctor can prove the sweat secretion disorder by means of secretion tests. The constellation of symptoms is relatively specific in Ross syndrome. Therefore, the diagnosis can be made purely clinically.
Steps to confirm the diagnosis are not yet available because the primary cause is not known at this time. However, the clinical picture is at least sufficient for a very probable diagnosis. Although the disease has not yet been cured, it is not a life-threatening condition as long as the patients comply with the supportive measures.
Complications
First and foremost, those affected by Ross syndrome can no longer secrete sweat. This loss of secretion usually only occurs on one side and is accompanied by a contraction of the pupils, so that visual problems can also occur. The entire reflex ability of the patient is also reduced in Ross syndrome and those affected can no longer stand slight heat.
It can also lead to loss of consciousness or fainting. Furthermore, dehydration occurs and, as the disease progresses, irritable bowel syndrome. Patients often suffer from abdominal pain, diarrhea or even flatulence. The quality of life of those affected is significantly restricted and reduced by Ross syndrome.
The disease also leads to blood pressure disorders, so that patients often suffer from dizziness or breathing difficulties. Heartburn or severe headaches can also occur. Unfortunately, Ross syndrome cannot be cured. Some of the symptoms can be reduced with the help of medication. Permanent cooling is also necessary with this syndrome. It cannot generally be predicted whether Ross syndrome will lead to a reduced life expectancy.
When should you go to the doctor?
Since Ross syndrome is a hereditary disease that can only be treated purely symptomatically and not causally, a doctor must be consulted with this disease in any case. Ross syndrome does not heal on its own. If the person concerned wishes to have children, genetic counseling can also be carried out in order to avoid inheriting the syndrome to children.
A doctor should be consulted if the person concerned suffers from severe overheating of the body. Sweat can hardly be separated out, so that the person concerned is always warm and cannot cool down. Patients often appear stressed or slightly aggressive. In some cases, blood pressure disorders or even fainting spells also indicate Ross syndrome and must be investigated if they occur without a specific reason.
First and foremost, a general practitioner can be consulted to diagnose Ross syndrome. However, further treatment is then carried out by a specialist. Whether a complete cure will be achieved cannot generally be predicted.
Treatment & Therapy
Ross syndrome is currently incurable. The exact genesis and causal relationships of the symptom complex remain unclear. For this reason, no causal therapy exists. Causal therapies correspond to causal therapies.
By eliminating the cause, such treatments are able to cure a disease in the long term. Symptomatic therapies are not able to do this. While these approaches alleviate the symptoms, they do not eliminate the causes. This means that symptomatic therapies only have a suppressive effect and cannot achieve any lasting improvement in the symptoms.
In Ross syndrome, long-term treatment consists primarily of supportive therapy steps. In the case of acute overheating due to anhidrosis, symptomatic therapy can be given. Symptomatic therapy steps are also available against hyperhidrosis on the side of the body capable of secreting, such as treatments with Botox or aluminum chloride.
Supportive therapy focuses primarily on preventing overheating. High temperatures and extreme physical exertion pose a risk of overheating for patients with Ross syndrome. Doctors therefore advise those affected to avoid extreme physical activity and stay in hotter areas.
If the body begins to overheat, patients are advised to use cool wet compresses. These envelopes imitate the sweat secretion and ensure the lack of evaporative cooling. The consumption of cold drinks or the laying on of ice cubes can also promise improvement in acute cases.
Prevention
Preventive measures in the context of Ross syndrome do not yet exist. Since the primary causes and genesis of the complex are unknown, preventive steps are not to be expected in the foreseeable future. Due to the small number of cases, research into the causes will probably take several more decades.
Aftercare
In the case of Ross syndrome, the options and measures for direct follow-up care are in most cases significantly limited, and in some cases they are not even available to the person affected. Therefore, the affected person should ideally consult a doctor very early on and also initiate treatment to prevent the occurrence of other symptoms and complications.
It is often not possible to heal on its own, so that the person concerned is dependent on treatment by a doctor and should consult him at the first sign. Most of those affected are dependent on various surgical interventions with which the symptoms and deformities can usually be alleviated well.
Those affected should definitely rest and rest after the procedure. Physical exertion or stressful activities should be avoided in order not to unnecessarily burden the body. First and foremost, medications that promote the symptoms must be discontinued. However, the medication should only be discontinued with the consent of a doctor. Regular check-ups by a doctor during treatment are also very important in order to identify and treat further damage to the body at an early stage.
You can do that yourself
Ross syndrome is an incurable disease. Affected persons must primarily 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 supported in their efforts so that they continue to carry out the preventive and supportive measures in adulthood.
In the event of acute overheating, the emergency doctor must be called immediately. The patient should quickly go into the shade and cool down well. If necessary, emergency medication must be taken. In the event of a circulatory collapse, first responders must provide first aid quickly. Anhidrosis itself cannot be treated causally. The self-help measures focus on preventing the body from overheating. This is achieved by the patient avoiding activities that promote sweating. Various drugs inhibit sweat production. They should be taken as directed by the doctor.
Since the condition is usually also mentally stressful, concomitant therapy can be useful. As part of a self-help group, patients get to know other sufferers and can thus better understand the disease.
