Trichothiodystrophy

Trichothiodystrophy

Trichothiodystrophy is a disease that is often referred to by the abbreviation TTD in medical jargon. Basically, trichothiodystrophy represents a group of heterogeneous diseases. The characteristic feature of the disease is reflected in the hair of the affected patients. The hair often only reaches a short length and tends to be brittle. In addition, the level of sulfur inside the hair is below normal.

What is trichothiodystrophy?

Research to date does not allow any reliable statements to be made about the frequency of occurrence of trichothiodystrophy in the population. However, it is now known that it is a disease with an autosomal recessive inheritance. In addition, trichothiodystrophy is divided into numerous sub-types. For atrioventricular septal defect definition and meaning, please visit eshaoxing.info.

The classification into the different forms of trichothiodystrophy is primarily based on the individually occurring symptoms and anomalies. The most important sub-forms of trichothiodystrophy are types C, D, E, F and G. Those suffering from trichothiodystrophy suffer from short and brittle hair. An analysis of the hair also shows a reduced concentration of sulfur.

The reason for this can be found in a disturbance in the formation of keratins with a sulfur content. Since keratins play an essential role in the structure of hair, growth disorders and impairments to the structure of the hair result as a result. In principle, doctors assume that trichothiodystrophy is comparatively rare.

Causes

According to current knowledge, trichothiodystrophy is a predominantly genetic disease. The disease is passed on to the offspring of affected individuals in an autosomal recessive manner. About 50 percent of all those affected show strong photosensitivity.

The reason for this can be found in disturbed processes in the repair of DNA that has been damaged by light. The focus here is on damage caused by ultraviolet rays. Mutations in a specific gene are found in patients with photosensitivity. The brittleness of the hair is caused by faulty processes in the formation of keratins containing sulphur.

Symptoms, Ailments & Signs

Individuals with trichothiodystrophy develop various signs and symptoms. The clinical picture is characterized by brittle and brittle hair, which in the majority of cases only reaches a short length. After a relatively short time, the hair breaks off due to the brittleness, so that patients suffering from trichothiodystrophy rarely have long hair.

In addition to the symptoms of hair growth, many patients have other symptoms. Some people affected by trichothiodystrophy suffer from growth retardation, fingernail malformations, reduced intelligence and congenital ichthyosis. Various other symptoms are also possible. In principle, the symptoms exist from birth, but differ in individual cases.

Diagnosis & course of disease

To be sure of the diagnosis of trichothiodystrophy, it is essential to consult a suitable doctor. If the disease is suspected in childhood, the pediatrician is a suitable first medical point of contact. If necessary, he will refer the patient and his/her legal guardians to a specialist.

At the beginning of the diagnosis, the doctor conducts a conversation with the patient in which he explores the existing symptoms and the medical history. In a further step of the diagnosis, the attending physician carries out various clinical examinations. Numerous characteristic signs of trichothiodystrophy are easily recognizable and strengthen the suspicion of the disease.

Thus, the doctor quickly notes the brittleness and unusual shortness of the patient’s hair. Microscopic analyzes of the hair show an alternation between lighter and darker sections. This is clearly visible, especially under polarized light, and is also referred to in medical jargon as a so-called tiger tail pattern. Tricoschisis and anomalies in the cuticles of the hair can also be observed.

Such findings are possible with the help of a scanning electron microscope. A meticulous differential diagnosis is very important. For example, congenital alopecia must be ruled out. In principle, the disease can be detected before birth in embryos in the womb. The so-called DNA repair within the amniocytes or trophoblasts is examined.

Complications

In many cases, trichothiodystrophy cannot be diagnosed and treated early because the symptoms are not particularly characteristic and do not primarily indicate the disease. Those affected usually suffer from very brittle and brittle hair.

The hair does not grow long, which can lead to aesthetic problems, especially in women. As a result, most patients do not feel beautiful and suffer from limited self-confidence or sometimes from strong inferiority complexes. Teasing or bullying can also occur as a result of trichothiodystrophy and have a negative effect on the psyche of the person concerned.

Those affected often also suffer from retardation and thus also from reduced intelligence. They are then dependent on the help of other people in their everyday life. Since the symptoms of trichothiodystrophy usually appear from birth, relatives and parents often suffer from psychological problems or depression.

Direct treatment of trichothiodystrophy is not possible. Because of this, only the cosmetic discomfort can be alleviated. There are no further complications. However, a complete cure of the disease is not achieved. Trichothiodystrophy does not affect or reduce the patient’s life expectancy.

When should you go to the doctor?

In the case of trichothiodystrophy, the person affected is dependent on medical examination and treatment in any case, since this disease cannot heal on its own. The sooner the doctor is contacted and the treatment is initiated, the better the further course of the disease is in most cases. Therefore, a doctor must be contacted as soon as the first symptoms and complaints of trichothiodystrophy appear. A doctor should be consulted for this disease if the affected person suffers from very brittle hair. These cannot grow particularly long, so women in particular suffer from this disease.

Reduced intelligence or a severe delay in growth can also indicate trichothiodystrophy, so that a doctor should also be contacted if you have these symptoms. The severity of the symptoms can be very different, so that no general course can be predicted. Trichothiodystrophy can be diagnosed by a general practitioner or a pediatrician. For further treatment, a visit to a specialist is usually necessary.

Treatment & Therapy

Basically, trichothiodystrophy is a disease that has existed in affected patients since birth. Due to the rare occurrence of the disease, there is no reliable knowledge about effective approaches to the therapy of trichothiodystrophy according to the current state of research. In principle, genetic therapy methods are conceivable, but these are not yet sufficiently mature.

For this reason, there are currently no options for the effective treatment of trichothiodystrophy. Causal therapeutic approaches to eliminate the symptoms of trichothiodystrophy are not known. Therefore, there are currently only symptomatic or cosmetic ways of treating and alleviating the psychological symptoms.

If the brittleness and shortness of the hair is perceived as too stressful, wigs are an option for many people suffering from trichothiodystrophy. In this way, the signs of the disease can be concealed, at least optically, so that the suffering for the sufferer is reduced.

Prevention

Since trichothiodystrophy is a congenital disease, there are currently no effective ways to prevent the disease according to current research findings.

Aftercare

In the case of trichothiodystrophy, those affected usually have only a few and only very limited follow-up measures available. Therefore, those affected by this disease should first and foremost consult a doctor very early on and also initiate treatment. As a rule, it cannot heal on its own, so treatment by a doctor is always necessary.

The sooner a doctor is consulted for trichothiodystrophy, the better the further course of the disease is usually. If the person concerned wishes to have children, genetic testing and counseling should be carried out to prevent the disease from recurring. Those affected are generally dependent on the help and support of their own families in everyday life.

In many cases, psychological support is also very important and can thus prevent depression and other upsets. Furthermore, surgical interventions are usually necessary to alleviate the malformations. The disease itself usually does not reduce the life expectancy of the person affected.

You can do that yourself

Trichothiodystrophy is basically a disease that affects those affected from birth, so patients are usually very well accustomed to their condition and have adapted their lives to the disease. Due to the rarity of the disease, no helpful knowledge about effective treatment approaches to cure the disease is known according to the current state of medical research.

In principle, therapy methods at the genetic level are conceivable, but these have not yet been adequately researched at the present time. Therefore, there are still no options for effective therapy of trichothiodystrophy.

Causal treatment approaches to eliminate the symptoms of the disease are not yet known. For this reason, there are currently only symptomatic and cosmetic ways of treating it and, above all, to alleviate psychological problems. Many of those affected find the brittleness and shortness of their hair very stressful. A good help for many of the patients suffering from trichothiodystrophy are wigs. Because with wigs, at least the visible signs of illness of those affected can be optically well concealed, so that the suffering of those affected can be reduced.

Since about half of those affected also often suffer from photosensitivity, it should be avoided if possible that they expose themselves to the blazing sun without protection. Headgear, sunglasses and suitable clothing that protects against the sun will help.

Trichothiodystrophy