Dictionary Medical

What does the abbreviation Dermotrichia Syndrome stand for?

When Dermot Richie’s syndrome is a disease that has the genetic usually causes. The affected patients consequently suffer from dermatrichia syndrome from birth. Observations to date show that the disease only occurs with low frequency in people on average. Dermotrichia syndrome is essentially characterized by three typical symptoms. These are alopecia, ichthyosis, and photophobia.

What is Dermotrichia Syndrome?

In the context of dermatrichia syndrome, the sick patients suffer from a characteristic combination of three main complaints. The affected people develop follicular ichthyosis as well as photophobia and alopecia. The synonym IFAP syndrome is derived from these three main symptoms. Basically, dermotrichia syndrome is a rare disease.

The symptoms show up shortly after birth, because Dermotrichia Syndrome is a genetically caused disease. The inheritance of the disease is usually X-linked. According to the current state of research, the exact frequency of occurrence of the dermotrichia syndrome is not yet exactly known. Approximately 40 cases of illness have already been proven.

It is noticeable in these patients that predominantly men develop the dermatrichia syndrome, while women are more rarely affected by the symptoms. However, women pass the disease on to offspring. In some cases, they also show typical symptoms of the dermotrichia syndrome.

Causes

In principle, dermotrichia syndrome is a hereditary disease. This means that genetic factors are responsible for the development of the disease and the typical symptoms. In the case of dermatrichia syndrome, it is mainly special mutations on a gene that trigger the disease.

Specifically, it is the so-called MBTPS2 gene. As a result of this mutation, cholesterol homeostasis does not proceed in the same way as in healthy individuals. In addition, the response to stress through the endoplasmic reticulum changes.

The prevalence of dermatrichia syndrome is currently estimated at around 1: 1,000,000, although no reliable statements are possible. In the majority of cases, the disease is inherited via the X-linked recessive route. In addition, an autosomal dominant mode of inheritance is also possible in individual cases.

Symptoms, ailments & signs

In dermatrichia syndrome, the affected patients suffer from a characteristic triad of symptoms, i.e. a combination of three typical leading complaints. On the one hand, it is a follicular ichthyosis that already exists from birth. As part of this disease, the follicles outgrowth, which are reminiscent of thorns in their shape. They also have a mirror-like shape.

Most of the symptoms appear on the skin of the head and on the extensor sides of the limbs. On the other hand, alopecia is a characteristic leading symptom of the dermotrichia syndrome. It is typical for those affected that they do not have any hair growth on their entire body. For this reason, there are no eyelashes or eyebrows, for example.

After all, dermotrichia syndrome is associated with photophobia, which is noticeable even in young children. Ulcers also develop in the corneal area, with scarring as the disease progresses.

In many cases, female carriers of the disease suffer from only weak symptoms of the dermotrichia syndrome.

Other possible symptoms of the disease are constant lacrimation, myopia, and cataracts. People with dermatrichia syndrome may have astigmatism. In rare cases, the affected patients suffer from a reduced intelligence, convulsive seizures and short stature.

In addition, optical anomalies sometimes occur, such as enlarged ears or a so-called balcony forehead. Some patients have cleft hands, malformations of the intestinal tract and stenosis of the small intestine in connection with the disease.

Diagnosis

Consultation with a doctor is indicated when the typical combination of the three leading symptoms of Dermotrichia Syndrome occurs in a person. Most of the time, the symptoms already show up in affected children and then give rise to a visit to the pediatrician. If the need arises, the doctor will refer the child patient to a suitable specialist.

When making the diagnosis, the present symptoms are first clarified. After talking to the patient and guardian, the doctor uses various clinical examination procedures. The typical signs of the disease give an important indication of the dermotrichia syndrome.

The diagnosis can usually be confirmed with the help of a genetic analysis of the patient concerned. When diagnosing dermatrichia syndrome, the attending physician also performs a thorough differential diagnosis. This is particularly relevant so as not to confuse dermatrichia syndrome with other diseases that have similar symptoms.

The doctor differentiates the symptoms of dermotrichia syndrome, for example, from those of mucoepithelial hereditary dysplasia and KID syndrome. In addition, the presence of Dermotrichalen syndrome and keratosis follicularis decalvans must be excluded.

When should you go to the doctor?

If dermatrichia syndrome is suspected, a doctor should be consulted. Symptoms such as follicles and cataracts do not necessarily indicate the hereditary disease. These complaints are almost always based on a serious illness, which must be clarified and treated if necessary.

The lack of hair growth on the body, on the other hand, is a clear indication of the dermotrichia syndrome. Anyone who notices this warning should speak to a doctor immediately and have the cause clarified. The same applies if visual problems are suddenly noticed or convulsive seizures occur again and again.

The disease should best be presented to a pediatrician or family doctor in early childhood or, at the latest, in adolescence. The general practitioner may refer the patient to a specialist in hereditary diseases. In addition, an ophthalmologist and, in the case of mental illness, a therapist should be consulted.

In severe cases, the sick person needs comprehensive support in everyday life later in life. The following applies here: initiate the necessary steps at an early stage and also inform relatives about the disease.

Treatment & Therapy

The dermotrichia syndrome cannot be treated causally. Emollients or substances containing urea are used in patients to treat follicular hyperkeratosis. The prognosis for dermatrichia syndrome varies from person to person. Some affected people die in infancy, while others reach an average age.

Outlook & forecast

The course of Dermotrichia Syndrome is difficult to predict. Some patients die as early as newborns. However, other people affected have a completely normal life expectancy. For all sufferers, however, the Dermotrichie Syndrome is a hereditary and incurable disease.

All patients suffer from the three main symptoms of hair loss, cornification disorders of the skin and considerable photosensitivity. In some cases, internal organs can also be affected. It can be fatal, especially if the heart or lungs are involved. More often, however, the prognosis is determined by the three main symptoms.

As part of alopecia, the body is completely hairless and there are no eyebrows and eyelashes. Especially on the scalp and on the extensor sides of the extremities, cornification has been so strong since birth that it appears as thorny follicular outgrowths. The cornifications can also be removed with difficulty by using drugs that dissolve the cornea or urea preparations. Both alopecia and follicular ichthyosis (cornification) do not shorten life expectancy, but they can seriously impair the quality of life of the patient and promote the occurrence of psychological abnormalities.

The photosensitivity of the patient is more dangerous and, without treatment, can often lead to impaired visual perception and even blindness. Although many sufferers have an average life expectancy, the loss of vision can severely limit their autonomy.

Prevention

Prevention of Dermotrichia Syndrome is impractical because the disease is congenital.

Aftercare

In most cases with dermotrichia syndrome, no special follow-up options are possible or necessary. Since this disease is a genetic disease, it cannot be treated causally, but only symptomatically. A complete cure is usually not possible. If the person with dermatrichia syndrome also wishes to have children, genetic counseling may also be carried out in order to prevent the syndrome from recurring.

In most cases, those affected with dermotrichia syndrome are dependent on taking medication. It is important to ensure that it is taken regularly. In the case of children, the parents in particular must ensure that the medication is taken correctly and regularly in order to prevent further symptoms. The affected children are dependent on loving and intensive care from their parents and relatives.

As the dermotrichia syndrome often leads to an early death of the child, psychological support can also be very useful. Intensive discussions with friends and family are particularly helpful. Contact with other affected parents of the dermatrichia syndrome can also be useful, as this leads to an exchange of information.

You can do that yourself

Dermotrichia syndrome is a hereditary disease, which is why the patient cannot take self-help measures that have a causal effect. At most, those affected can help alleviate some of the symptoms of the disorder.

Ichtyosis, which is one of the leading complaints of the syndrome, can often be alleviated through consistent and targeted skin care. Baths enriched with Dead Sea salt are helpful. After the bath, the skin should be carefully dabbed and then cared for with a special ointment. Hypoallergenic products that contain the active ingredient urea (urea) also have a supportive effect.

The best way to combat photophobia is a pair of very good sunglasses. In addition, light blue curtains can provide subdued, but nonetheless pleasant and homely light in the home environment.

In rare cases, patients also suffer from mental retardation. The parents of the affected children should then ensure optimal early intervention. The intellectual development of the affected children can be specifically promoted with psychological and educational methods.

Patients who suffer mentally because of their often conspicuous appearance should consult a psychotherapist in good time. Some of the visual abnormalities, such as oversized ears or a balcony forehead, can be corrected surgically.

Dermotrichia Syndrome