Darya disease (follicular vegetative dyskeratosis): causes, symptoms, diagnosis, treatment

Darya disease is a rare disease characterized by pathological keratinization (dyskeratosis), precipitation of horny, mostly follicular, papules on seborrheic areas.

Causes and pathogenesis of Darya disease (follicular vegetative dyskeratosis). The disease is based on a deficiency in the synthesis and maturation of the topophilament-desmosome complex. It has now been established that, in Darya's disease, the mutation of the pathological gene 12q23 - q24.1 leads to a disruption in the function of calcium pumps and the mechanism of cell adhesion. In the pathogenesis, the role of hypovitaminosis A, the disruption of the metabolism of unsaturated fatty acids is possible. It is the same in both sexes.

Symptoms of Darya disease (follicular vegetative dyskeratosis). Clinically, the typical form of the disease usually begins in the second decade of life and is characterized by the rash of follicular, dense, round, flat, hyperkeratotic papules 0.3-0.5 cm in diameter. In the beginning, the elements of the rash are isolated, the colors of normal skin, then become yellow or light brown, with horny scales on the surface. Over time, the rashes merge into plaques, their surface becomes verrucous, papillomatous and covered with dirty brown crusts. After dropping or peeling, eroded pockets are observed. The preferred location of the rash is seborrhea (face, sternum, interblade area, large folds of the skin). Also, the rash may be located on the trunk and extremities. On the scalp, the eruptions are similar to seborrhea, the face is localized mainly in the temporal areas, on the forehead, in the nasolabial folds, on the rear of the hands the foci resemble acrokeratosis of Gopf. Rarely, the palms and soles are damaged in the form of point or diffuse hyperkeratosis. The pathological process can take on a widespread nature or cover the entire skin. The beginning of the disease is described in adults, but usually in a weakened (abortive) form.

In the practice of a dermatologist, in addition to the typical, vesicular (or vesiculobullous), hypertrophic and abortive forms of Darya's disease can be observed.

The vesicle form, in addition to the typical follicular nodules, is characterized by the precipitation of vesicles 3-5 mm in diameter with transparent contents. Vesicles are located mainly in large folds of the skin, quickly open, exposing the wet erosive surfaces, gradually becoming covered with crusts. Such foci resemble the chronic family pemphigus Haley-Haley.

In hypertrophic form, simultaneously with typical nodules, there are large elements resembling warts, as in the acrokeratosis of Gopf. The thickness of hyperkeratotic plaques reaches up to 1 cm or more, there are warty growths and deep cracks on the surface.

For the abortive form of Darya's disease, the localization of rashes on limited and unusual for dermatosis areas of the skin in the form of a nevus, as well as zosteriform location.

The nail plates are split longitudinally, breaking unevenly at the free edge, the surface has white and reddish-brownish longitudinal bands, often subungual hyperkeratosis develops. The mucous membrane is rarely affected. Rashes appear in the form of small papules such as leukoplakia. From systemic changes, there is a decrease in intelligence, mental retardation, endocrinopathy: dysfunction of the sex glands, secondary hyperparathyroidism. In patients with follicular dyskeratosis, the disease is often aggravated under the influence of UV rays (similar to the Koebner phenomenon).

Histopathology. Histologically, Darya's disease is characterized by pronounced orthokeratosis with the formation of horny plugs, the presence of round bodies and grains in the upper part. In the dermis, papillomatous growths are observed, covered with one row of cells of the basal layer, chronic inflammatory infiltration, sometimes - acanthosis and hyperkeratosis.

Differential diagnosis. Darya's disease should be distinguished from a family bubble-eye of Haley-Haley, warty acrokeratosis, Kirl's disease, Morrow Brook's follicular keratosis.

Treatment of Darya disease (follicular vegetative dyskeratosis). Assign neotigazon 0,5-1 mg / kg body weight of the patient or vitamin A at 200,000-300000 ME per day. External apply keratolytic and glucocorticosteroid ointments.

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