Darier's disease (follicular vegetative dyskeratosis): causes, symptoms, diagnosis, treatment

Darier's disease is a rare disorder characterized by abnormal keratinization (dyskeratosis), the appearance of horny, predominantly follicular, papules on seborrheic areas.

Causes and pathogenesis of Darier's disease (follicular vegetative dyskeratosis). The disease is based on a deficiency in the synthesis and maturation of the topofilament-desmosome complex. It has now been established that in Darier's disease, a mutation of the pathological gene 12q23 - q24.1 leads to a disruption of the calcium pump function and the mechanism of cellular adhesion. Hypovitaminosis A and a disruption of the metabolism of unsaturated fatty acids may play a role in the pathogenesis. It occurs equally in both sexes.

Symptoms of Darier's disease (follicular vegetative dyskeratosis). The clinically typical form of the disease usually begins in the second decade of life and is characterized by a rash of follicular, dense, round, flat, hyperkeratotic papules 0.3-0.5 cm in diameter. At first, the rash elements are isolated, the color of normal skin, then they become yellow or light brown, with a horny scale on the surface. Over time, the rash merges into plaques, their surface becomes warty, papillomatous and covered with dirty brown crusts. After the crusts fall off or are removed, eroded foci are observed. The favorite localization of the rash is seborrheic areas (face, sternum, interscapular region, large folds of skin). The rash can also be located on the trunk and limbs. On the scalp, the rash is similar to seborrhea, on the face it is localized mainly in the temporal areas, on the forehead, in the nasolabial folds, on the back of the hands the lesions resemble Hopf's acrokeratosis. Rarely, the palms and soles are affected in the form of point or diffuse hyperkeratosis. The pathological process can become widespread or cover the entire skin. The onset of the disease in adults has been described, but usually in a weakened (abortive) form.

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

The vesicular form, in addition to typical follicular nodules, is characterized by a rash of vesicles 3-5 mm in diameter with transparent contents. The vesicles are located mainly in large folds of the skin, quickly open, exposing weeping erosive surfaces that gradually become covered with crusts. Such lesions resemble chronic familial pemphigus Hailey-Hailey.

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

The abortive form of Darier's disease is characterized by the localization of rashes on limited and unusual areas of the skin for dermatosis in the form of a nevus, as well as a zosteriform arrangement.

The nail plates split longitudinally, breaking off unevenly at the free edge, there are white and reddish-brown longitudinal stripes on the surface, subungual hyperkeratosis often develops. The mucous membrane is rarely affected. Rashes appear in the form of small papules of the leukoplakia type. Systemic changes include decreased intelligence, mental retardation, endocrinopathies: dysfunction of the sex glands, secondary hyperparathyroidism. In patients with follicular dyskeratosis, an exacerbation of the disease under the influence of UV rays is often noted (similar to the Koebner phenomenon).

Histopathology. Histologically, Darier'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 by one row of cells of the basal layer, chronic inflammatory infiltrate, sometimes - acanthosis and hyperkeratosis.

Differential diagnosis. Darier's disease should be distinguished from familial pemphigus Hailey-Hailey, verrucous acrokeratosis, Kyrle's disease, and follicular keratosis Morrow Brook.

Treatment of Darier's disease (follicular vegetative dyskeratosis). Neotigazone is prescribed at 0.5-1 mg/kg of the patient's body weight or vitamin A at 200,000-300,000 IU per day. Keratolytic and glucocorticosteroid ointments are applied externally.

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