Dermotrichia syndrome is a disease that usually has genetic causes. Consequently, affected patients suffer from dermotrichia syndrome from birth. At the same time, previous observations show that the disease occurs on average only with low frequency in individuals. Dermotrichia syndrome is essentially characterized by three typical complaints. These are alopecia, ichthyosis and photophobia.
What is dermotrichia syndrome?
In dermotrichia syndrome, affected patients suffer from a characteristic combination of three leading complaints. In this process, affected individuals develop ichthyosis follicularis as well as photophobia and alopecia. The synonym IFAP syndrome is derived from these three main symptoms. Basically, dermotrichia syndrome is a rarely occurring disease. The symptoms appear shortly after birth, because dermotrichia syndrome is a genetically caused disease. The inheritance of the disease is mostly X-linked. According to the current state of research, the exact frequency of occurrence of dermotrichia syndrome is not yet known. Currently, about 40 cases of the disease have already been identified. It is remarkable that mainly men suffer from dermotrichia syndrome, whereas females are less frequently affected by the symptoms. However, women pass the disease on to offspring. In some cases, they also show typical symptoms of dermotrichia syndrome.
Causes
In principle, dermotrichia syndrome is a hereditary disease. This means that genetic factors are responsible for the development of the disease as well as the typical symptoms. In the case of dermotrichia syndrome, it is mainly specific mutations on one gene that trigger the disease. Specifically, this is the so-called MBTPS2 gene. As a result of this mutation, cholesterol homeostasis does not occur in the same way as in healthy individuals. In addition, the response to stress by the endoplasmic reticulum is altered. Currently, the prevalence of dermotrichia syndrome is estimated to be approximately 1:1,000,000, although no firm conclusions can be drawn. In the majority of cases, the disease is inherited in an X-linked recessive manner. In addition, an autosomal dominant mode of inheritance is also possible in individual cases.
Symptoms, complaints, and signs
In dermotrichia syndrome, affected patients suffer from a characteristic triad of symptoms, that is, a combination of three typical leading complaints. The first is follicular ichthyosis, which is present from birth. In the context of this disease, there are outgrowths of the follicles, which resemble thorns in their shape. In addition, they have a mirror-like shape. The symptoms occur mainly 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 dermotrichia syndrome. It is typical for the affected persons that they do not show any hair growth on the entire body. For this reason, for example, neither eyelashes nor eyebrows are present. Finally, dermotrichia syndrome is accompanied by photophobia, which is already noticeable in young children. Ulcers also develop in the corneal area, with scarring occurring as the disease progresses. Female carriers of the disease suffer in many cases only mild symptoms of dermotrichia syndrome. Other possible symptoms of the disease include constant lacrimation, myopia, and cataract. In some circumstances, individuals suffering from dermotrichia syndrome show astigmatism. In rare cases, affected patients suffer from reduced intelligence, convulsive seizures, and short stature. In addition, optical anomalies sometimes occur, such as enlarged ears or a so-called balcony forehead. In some patients, split hands, malformations of the intestinal tract, and stenosis of the small intestine are seen in association with the disease.
Diagnosis
Consultation with a physician is indicated when the typical association of the three leading complaints of dermotrichia syndrome occurs in a person. In most cases, the symptomatology is already apparent in affected children and then gives rise to a visit to the pediatrician.If the need arises, the physician refers the child patient to an appropriate specialist. When making a diagnosis, the first step is to clarify the presenting symptoms. After talking to the patient and the guardian, the physician uses various clinical examination procedures. The typical signs of the disease already provide an important indication of the dermotrichia syndrome. Confirmation of the diagnosis is usually possible with the help of a genetic analysis of the affected patient. When diagnosing dermotrichia syndrome, the attending physician also performs a thorough differential diagnosis. This is particularly relevant in order not to confuse dermotrichia syndrome with other diseases that have similar symptoms. In doing so, the physician differentiates the symptoms of dermotrichia syndrome from those of mucoepithelial hereditary dysplasia as well as KID syndrome, for example. In addition, the presence of dermotrichal syndrome and keratosis follicularis decalvans must be excluded.
When should you see a doctor?
If dermotrichia syndrome is suspected, a physician should be consulted. Symptoms such as follicles and cataracts do not necessarily indicate the hereditary disease. However, these symptoms are almost always based on a serious disease, which must be clarified in any case 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 sign should immediately talk to a doctor and have the cause clarified. The same applies if vision problems are suddenly noticed or if cramp-like seizures occur repeatedly. The condition is best 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 psychological conditions, a therapist should be consulted. In severe cases, the sufferer will need extensive support in everyday life later in life. The rule here is to take the necessary steps at an early stage and also inform relatives about the disease.
Treatment and therapy
Dermotrichia syndrome cannot be treated causally. Emollients or substances containing urea are used to treat follicular hyperkeratosis in patients. The prognosis of dermotrichia syndrome varies in individual cases. Some affected individuals die in infancy, while others live to an average age.
Outlook and prognosis
The course of dermotrichia syndrome is difficult to predict. For example, some patients die in neonatal life. However, other affected individuals have a normal life expectancy. For all patients, however, dermotrichia syndrome is a hereditary and incurable disease. All patients suffer from the three leading symptoms hair loss, cornification disorders of the skin and a considerable photosensitivity. In some cases, internal organs may also be affected. Especially when the heart or lungs are involved, fatal courses may occur. More often, however, the prognosis is determined by the three leading symptoms. In the context of alopecia, there is complete hairlessness of the body as well as missing eyebrows and eyelashes. Especially on the scalp and on the extensor sides of the extremities, keratinization is so severe that it appears as thorny follicular outgrowths already since birth. The cornifications can be removed only with difficulty even by cornea-solving medications or urea preparations. Both alopecia and follicular ichthyosis (keratinization) do not shorten life expectancy, but they can severely affect the quality of life of patients and promote the appearance of psychological abnormalities. More dangerous is the photosensitivity of patients, which without treatment can often lead to the limitation of visual perception and even blindness. Although many affected individuals have an average life expectancy, however, visual loss can severely limit their autonomy.
Prevention
Prevention of dermotrichia syndrome is not practical because the condition is congenital.
Follow-up care
In most cases, no special options for follow-up care are possible or necessary with dermotrichia syndrome. Also, because this is a genetic condition, it cannot be treated causally, only symptomatically.A complete cure is usually not possible. If the person affected by dermotrichia syndrome also has a desire to have children, genetic counseling may also be performed to prevent the syndrome from recurring. In most cases, dermotrichia syndrome sufferers are dependent on taking medication. In this case, regular intake must be ensured. In the case of children, it is above all the parents who must ensure that the medication is taken correctly and regularly in order to prevent further symptoms. The affected children depend on loving and intensive care by parents and relatives. Since the dermotrichia syndrome often leads to an early death of the child, psychological support can also be very useful. Intensive conversations with friends and the own family are very helpful. Also the contact to other affected parents of the Dermotrichie syndrome can be meaningful thereby, since it comes to an exchange at information.
What you can do yourself
Dermotrichia syndrome is a hereditary disease, so patients cannot take self-help measures that have a causal effect. At best, sufferers 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 by 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 containing the active ingredient urea also have a supporting effect. The best way to combat photophobia is to wear very good sunglasses. In addition, in the home environment, light blue curtains can provide subdued light that is nevertheless perceived as pleasant and homely. In rare cases, patients also suffer from mental retardation. In such cases, the parents of the affected children should provide optimal early support. Psychological and pedagogical methods can be used to specifically promote the intellectual development of the affected children. Patients who suffer emotionally due to 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 surgically corrected.
