Darya disease( follicular dyskeratosis): diagnosis, treatment methods

August 18, 2017 23:00 | Hereditary

By treating skin diseases, disease Dere as a variety of congenital ichthyosis can be characterized as a form of dyskeratosis associated with impaired keratinization process of the upper layer of the epidermis.The lack of data and the prevalence of the disease do not allow us to judge its epidemiology, but manifestations and symptoms can occur quite often, since there are several stages in the development of the disease and they all differ in their manifestations.

Today we'll show you how to manifest itself follicular dyskeratosis in fetuses, infants, children, adults, what are the causes of congenital ichthyosis, and how to properly treat it.

Features disease

manifestations in men and women do not differ;The main symptom of the disease is the appearance of seals on the skin, which arise due to the presence of a defective gene. Darya's disease is inherited, as the gene mutation can be transmitted to both men and women.In this case, the autosomal dominance of the mutated gene is observed.

The basis of Darya's disease is a combination of the following factors:

  • structural changes in the composition of desmosomes;
  • development of violations in the formation of complexes of to-no-filaments-desmosomes;
  • occurrence of a defect in the composition and state of intercellular cement;
  • accelerating individual vacuolation of epithelial cells with active condensation therein large numbers of tonofilaments, which leads to the formation of two types of cells - of round grains and bodies.

Thus there is an increase in activity of enzymes that participate in the keratinisation of the epidermis and decreased cellular immunity by reducing the zinc content in the skin cells.

Darier's disease( photo)

Darje disease

Classification

Today there are four main clinical forms Darier Disease:

  1. classical follicular;
  2. localized( zosteriform or linear);
  3. poured;
  4. is vesicular and bullous.

The development of the disease is mainly observed in adolescence.The nature of Darya's disease is chronic with gradual progression in the summer: the skin becomes more susceptible to sunlight( UV rays).

Reasons for the occurrence of

The main causes of the occurrence of Darya's disease are gene changes that have the property of being inherited by both men and women. Inheritance is autosomal dominant.

Symptoms of

The most frequent manifestations of Darya's disease are changes in the skin that gradually increase in thickness become thicker and coarser.Probably the manifestation of peeling, with various forms of the disease, the peeling has a different intensity.

External manifestations of the activation of Darya's disease also have the following symptoms:

  • the appearance of multiple dense papules having a follicular character, whose diameter is 0.3-0.6 cm. They have a globular shape with a papillomatous plane on the surface that is covered with minuteScales;
  • papules on the skin have a pronounced greyish-brown color, rarely - skin color;
  • skin lesions are observed mainly in the face and scalp, in the chest area, behind the ears, in the area of ​​large folds;
  • with the fusion of individual papules occur verruzed plaques.Also, small bubbles can develop on the skin, often in the neck.

Often there may be changes in the condition of the nail plate: there appear longitudinal bands of white and red flowers, the nails begin to separate.

Congenital ichthyosis in the child( photo)

Congenital-ichthyosis-2

Diagnosis of the Darya disease

The clinical picture allows you to put a preliminary diagnosis, but to refine it and determine the method of treatment should be a number of additional studies of the affected skin.The laboratory method of investigation is histological examination.

The following treatment is considered, aimed at congenital ichthyosis in the form of Darya's disease.

Treatment

Complete cure of Darya's disease is not achieved, but modern methods of treatment can quickly and permanently eliminate the unpleasant manifestations of this pathological change and restore health to the skin.

About the treatment of the disease Darje will tell this video:

Therapeutic method

  • The appearance of keratinized areas on the skin can be treated with the use of vitamin A preparations, which improves the skin condition and allows to reduce the manifestations of the disease.Vitamin A also improves the absorption of zinc from multivitamin preparations and food, which also positively affects the skin.Treatment is usually done on an outpatient basis.
  • Also used is the use of pearl baths with keratolytic ointment in the form of appliqués.

By medicamentous method

In case of exacerbation of Darya's disease, the patient is usually hospitalized.During treatment, he is given oral intake of vitamin A, as well as his injections.The duration of treatment is selected individually.

Operation

  • For particularly complex cases of skin lesions in Darya's disease, surgical intervention or electrocoagulation may be prescribed.
  • With parallel development of bacterial infection, antibacterial therapy should be used.

  • Because Darya's disease is transmitted only by inheritance, counseling can be recommended as a prophylaxis for a dermatologist if any of the relatives have couples who plan a pregnancy.
  • Regular hygiene procedures, drying the skin ointments and creams, the use of special means for showering and bathing - all these moments must be observed with a tendency to skin diseases.

To what complications the presence in the history of Darya's disease( follicular dyskeratosis disease) can lead, we will tell below.

Follikulyarnyj-diskeratoz-foto

Follikulyarnyj-diskeratoz-foto Complications

In the detection of Darya's disease, in the absence of necessary treatment, complications can occur in the form of exacerbation of external manifestations, the onset of puffiness of the skin, and deterioration of its condition with rashes.

Forecast

Treatment, scheduled in a timely manner and carried out in a complex way, allows to obtain stable improvement of skin condition.However, full recovery should not be expected.