Christ-Siemens-Touraine Syndrome – Causes, Symptoms & Treatment


Christ -Siemens-Touraine syndrome is an ectodermal dysplasia. The main symptoms of the disease are malformations of the skin appendages. The focus of the therapy is heat release, as patients often do not have fully developed sweat glands and therefore overheat quickly.

What is Christ-Siemens-Touraine Syndrome?

During gastrulation , three so-called germ layers are formed during embryonic development. This germ layer formation occurs through cell migration in early pregnancy and is equivalent to the first tissue differentiation. Before cotyledon formation, the embryonic cells are omnipotent. Only multipotent cells are present in the germ layers.

This means that the tissues of the germ layers can only develop into certain body tissues. One of the three germ layers is the ectoderm. In addition to the skin, intestinal lining, nervous system, and adrenal medulla, sensory organs, teeth, and enamel develop from the ectoderm.

Various developmental disorders and genetic defects can cause errors in ectodermal tissue development. Such errors result in ectodermal dysplasia, such as Christ-Siemens-Touraine syndrome. This condition corresponds to a so-called system dyplasia because it affects different body systems.

The disease is also known as anhydrotic ectodermal dysplasia and corresponds to the most common dysplasia of the ectoderm. Unlike many other ectodermal tissue-based malformations, Christ-Siemens-Touraine syndrome is a genetic defect with a worldwide prevalence of approximately 1 in 10,000.


Christ-Siemens-Touraine Syndrome is a malformation syndrome with a genetic basis. This means that the individual disturbances in ectodermal tissue development in this case are due to internal factors and are not primarily related to external factors such as environmental toxins. The complex of symptoms appears to be inherited in an X-linked recessive manner.

The basis of the disease is a mutation of different genes that are passed on the X chromosome. These are the genes XLHED, EDA and ED1 with mapping in the gene locus Xq12 to Xq13.1. Similar cases have been documented regardless of X-linked inheritance. Both autosomal dominant and autosomal recessive transmission are now associated with the syndrome.

The mutations in the genes mentioned change the genetic material and thus result in physiologically unforeseen processes. In the DNA, the EDA gene encodes, for example, the protein ectodysplasin-A, which belongs to the family of tumor necrosis factor α-ligands.

In a healthy organism, this coding produces the gene product ectodysplasin-A, which controls the interaction between the mesenchyme and the epithelium. It therefore plays a role above all in controlling the development of the skin appendages, which are put together incorrectly if the gene is defective.

Symptoms, Ailments & Signs

Patients with Christ-Siemens-Touraine syndrome suffer from various malformations of the ectodermal tissue. Skin, hair, nails, sweat glands and sebaceous glands are most affected. The core symptoms are hypohidrosis, hypotrichosis and hypodontia , i.e. fewer teeth, reduced sweat secretion and reduced hair formation.

In addition, the skin is dry , scaly and often covered with eczema . The heat adaptations (thermoregulation) are due to the low sweat secretion, so that fever can occur. Protruding ears at an abnormal depth are just as common accompanying symptoms as underdeveloped eyelashes and eyebrows, colorless hair, abnormal skin coloration, bulging lips or saddle nose.

In individual cases, there are also forehead humps. The rather rare accompanying symptoms include additional eye diseases such as cataracts or glaucoma . In other cases, tissue breakdown can be observed on the optic nerve ( optic atrophy ).

In addition, a regression of the retina (retinal degeneration ) is conceivable as an eye symptom. In some cases deafness has been reported in addition to the reported symptoms . Short stature can also occur as part of the syndrome.

Diagnosis & History

The diagnosis of Christ-Siemens-Touraine syndrome is made on the basis of the clinical picture. The combination of reduced sweat secretion and abnormalities of hair and teeth results in a relatively typical picture. The doctor does not always make the diagnosis immediately after birth.

In many cases, however, the missing or reduced formation of the sweat glands becomes noticeable in early childhood at the latest. A molecular genetic test can be used to confirm the diagnosis. If the test reveals mutations in the corresponding genes, the diagnosis is considered proven.

The prognosis for patients with Christ-Siemens-Touraine syndrome depends on the severity of the symptoms in the individual case. Fatal cases are known. These cases are usually associated with a high fever as a result of thermoregulation disorders.

When should you go to the doctor?

In most cases, the Christ-Siemens-Touraine syndrome is diagnosed directly after birth, so that an additional diagnosis is usually no longer necessary. A doctor must be consulted for this disease if the person concerned cannot sweat and thus cannot properly release excessive heat into the environment. Skin and nails are also affected by the syndrome, becoming scaly and dry.

In addition, the patients often suffer from reduced hair growth, so that a medical examination is also advisable for this complaint. Eye diseases can also indicate Christ-Siemens-Touraine syndrome and should be examined. The syndrome can also lead to short stature or deafness, and those affected should also consult a doctor if these symptoms occur.

The condition can be diagnosed by a pediatrician or a general practitioner . Since there is no direct treatment, those affected are dependent on special ways of cooling down. Certain malformations can be treated by the respective specialist.

Treatment & Therapy

So far, the Christ-Siemens-Touraine syndrome is incurable. A causal therapy does not yet exist. In the case of genetic diseases, any causal therapy would have to start with the genes themselves. So far this has not been possible. It is true that gene therapy approaches have made progress in recent decades and have become a focus of medical research.

However, the approaches have not reached the clinical phase. Therefore, patients with Christ-Siemens-Touraine syndrome have only received symptomatic treatment, which is combined with supportive treatment steps such as self-help groups. The focus of the therapy is the regulation of body temperature.

Life-threatening conditions can be prevented in this way. Evaporation processes are used: In order to imitate sweating and to achieve heat release, the skin of those affected is moistened, for example. Heat conduction is also used by bringing the patient into contact with cool objects.

The heat dissipation to the moving ambient air can occur primarily through drafts, fans or air conditioning systems. The eating and drinking behavior of the patients can also be adjusted to heat regulation. To cool down, those affected drink as much cold water as possible during the day and night.

Basically, an interdisciplinary team of doctors takes over the treatment. Dentures to improve the dental situation, for example, contribute immensely to the quality of life of patients.

Outlook & Forecast

Christ-Siemens-Touraine syndrome does not heal itself. For this reason, those affected are always dependent on medical treatment. However, most symptoms of the syndrome can be controlled relatively well, allowing patients to lead an ordinary life.

The skin complaints lead to difficulties in dissipating heat, so that those affected often suffer from fever. The aesthetics of the patient is also negatively affected by the malformations of the hair and the unusual coloring of the skin.

This often leads to psychological problems. Christ-Siemens-Touraine syndrome can also negatively affect vision, with some patients also suffering from deafness or short stature . These complaints cannot be treated, so that those affected have to struggle with limitations throughout their lives.

As a rule, the disturbed release of heat can be controlled relatively well by eating and drinking habits. The environment can also be adjusted so that overheating or other discomfort does not occur. Although the symptoms cannot be completely curtailed, the life expectancy of the patient is usually not negatively affected by Christ-Siemens-Touraine syndrome.


So far, Christ-Siemens-Touraine syndrome can only be prevented by genetic counseling in family planning. Far more important than prevention can be the early detection of the disease, for example with fine ultrasound.


In most cases, the patient with Christ-Siemens-Touraine syndrome has no or only very few direct follow-up measures available. In the case of this disease, the person affected is primarily dependent on rapid and, above all, early diagnosis and treatment so that further complications can be prevented. Since Christ-Siemens-Touraine syndrome is a congenital disease, it cannot be completely cured.

If the affected person wishes to have children, genetic counseling should be carried out in order to prevent the recurrence of this disease. Self-healing cannot occur in this case. Those affected must properly regulate the release of heat in this disease themselves. The skin can be moistened if it gets too hot so that the heat can be released.

Strenuous or physical activities should also be avoided in order not to strain the body unnecessarily. Drinking cold water can also relieve the symptoms of Christ-Siemens-Touraine Syndrome. It is not uncommon for contact with other people affected by the syndrome to have a positive effect on the course of the disease, since there is often an exchange of information. Life expectancy is usually not reduced by this disease.

You can do that yourself

Unfortunately, it is not possible to treat the Christ-Siemens-Touraine syndrome itself that would lead to a cure. It is based on a mutation in the genetic material, so a cure would only be possible at the genetic level.

The affected patients are therefore only able to treat the symptoms in the sense of self-therapy. In this regard, the main focus is on influencing the body temperature . Various measures can be taken to counteract the overheating of the body caused by the syndrome .

Above all, this includes moisturizing the skin, which simulates the sweating process , which is usually severely impaired by the disease. Cooling objects pressed against the skin can also help prevent overheating. The same applies to all cooling options, be it through air conditioning or simply through drafts.

This not only improves the patient’s own body awareness, but also prevents other possible body reactions due to heat dissipation. Depending on the need to cool down, patients are best advised to drink cold drinks and also pay attention to the heat balance of the body when eating.

The syndrome is also occasionally associated with reduced hair growth on the body; medication can help on this issue.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.