Darye’s disease (follicular vegetative dyskeratosis) is a hereditary disease transmitted by an autosomal dominant type with varying degrees of phenotypic manifestation of a defective gene. The basis of clinical manifestations is pathological keratinization of epidermal cells (dyskeratosis). The primary element is small flaky spots or globular papules covered with crusts, merging into plaques. Dermatosis is localized on the face, chest, back, in the interscapular region, on the scalp. It is possible to attach a secondary infection. There is no gender division. Treatment is symptomatic. The prognosis for life is favorable.
Darye’s disease is a rare hereditary dermatosis caused by an abnormal mutation of a part of DNA responsible for the synthesis of a protein binding epidermal cells, with an outcome in dyskeratosis. This hereditary disease can be traced in several generations of the family, manifests itself in the twentieth year of life. The pathology was first described in 1889 by the French dermatologist J. Daria. It was a treatise on psorospermia, special microorganisms – lumps of protoplasm, which the researcher regarded as the root cause of the disease. Modern dermatologists are well aware that Darye’s disease is a genetic disease that occurs due to a defect in the hereditary apparatus of the cell, affecting both women and men. The urgency of the disease is associated with the hereditary nature of the process, which requires careful and responsible attitude of parents to their children, already growing up next to them or still only planned for birth. There is no information about the prevalence of the disease.
Genetic predisposition is certainly a risk factor in the development of Darya’s disease. However, the essence of hereditary dermatosis is a violation of intercellular communications (desmosomes). As a result of mutation of the “protein” segment of DNA (12g23-g24), the function of calcium pumps (cell membrane proteins) is disrupted, ensuring the strength of cell adhesion to each other. The structure of the epidermis is changing: epidermal cells multiply, without having time to mature, dyskeratosis occurs. Some dermatologists tend to consider hypovitaminosis A as an additional cause of the development of dyskeratosis . The lost density of the epidermis leads to the formation of intercellular spaces, where pathogenic flora immediately migrates, infecting healthy skin. In addition, constantly vegetating cells of the stratum corneum begin to self-exfoliate, exposing the erosive surface, which is also infected by microbes.
Depending on the clinical manifestations, hereditary dermatosis is divided into:
- Classic follicular dyskeratosis is a seborrheic form of the disease that occurs in 90% of cases.
- Localized (linear or zosteriform) dyskeratosis, abortive form of the disease – linear foci of dyskeratosis are localized exclusively on limited and non-standard areas of the skin.
- Hypertrophic (hyperkeratotic) dyskeratosis or an isolated form (warty dyskeratoma) is the primary element – plaques of dyskeratosis with cracks and warty growths on the surface.
- Vesicular-bullous dyskeratosis – is characterized by polymorphism of the rash: nodules, vesicles at different stages of development.
The first manifestation of follicular vegetative dyskeratosis is considered to be the expansion of the mouth of the sweat glands – the appearance of well-marked depressions on the externally unchanged skin. The debut of Darya’s disease is also called a nail lesion with a distinct alternation of pinkish and whitish longitudinal stripes (leukonychia) on the surface of the nail, grooves, cracks, subcutaneous hyperkeratosis. Sometimes a wedge-shaped defect in the form of a slit literally “cuts” the nail in half.
The classic form of the disease is manifested by the rash of follicular papules covered with scabs (crusts) on the areas of the skin typical for the localization of the seborrheic process: forehead, nasolabial folds, temples, neck, decollete area, interscapular space. The scalp is also affected. When removing the crusts, small erosions are formed, which become inflamed due to the addition of a secondary infection, causing pain, unpleasant odor, general intoxication of the body.
With a localized or abortive form of the disease, the rashes are located linearly only on a limited area of the skin: the primary element is papule, the secondary is pigmentation and erosion. The isolated form is characterized by a combination of nodules and polygonal papules resembling warts and having a tendency to merge into plaques. The process is localized on the back of the hands and feet. At the same time, the palms and soles are affected by point keratosis of a diffuse nature.
In the vesicular-bullous variety of Darye’s disease, bubbles with transparent contents are attached to the nodules. The rash is localized in large folds of the skin and on the mucous membranes. If the process affects only the mucous membranes, they talk about leukoplakia, which requires special attention.
As a background pathology of follicular vegetative dyskeratosis, cataracts, myopia, nystagmus, strabismus, diseases of the endocrine glands, epileptic seizures, dementia, bone cysts occur. Dermatosis has a wave-like course with prolonged remissions and exacerbations. The provoking moment is most often the UFO.
Diagnosis and treatment
The diagnosis of the disease is made on the basis of anamnesis, typical clinical manifestations of pathology with histological confirmation (if necessary). Differentiate with lichen planus, “dry” and fungal eczema, benign familial pemphigus Gougereau-Haley-Haley, Grover’s disease, Hopf’s acrokeratosis.
Treatment is symptomatic, long-term and complex. First of all, it is necessary to exclude factors that can provoke an exacerbation or relapse of the disease: UVI, hypothermia, high humidity, sweating. Next, get rid of the secondary infection, if any, with the help of antibiotics (amoxicillin + clavulanic acid), antifungal drugs (ketoconazole). Locally, aniline dyes, aerosols based on antibiotics and hormones are used. With a pronounced inflammatory process with an exudative component, glucocorticoids are used orally.
In parallel, the foci of chronic infection are sanitized and concomitant somatic pathology is treated. The main attention is paid to the correction of keratinization, using vitamin A in large doses, vitamin E. Salicylic ointments (2%-5%), Unna cream with retinol, dimethyl sulfoxide are externally prescribed. Oxygen therapy, oxygen and sea baths are indicated. PUVA therapy is recommended. Elements of large sizes are removed after consultation with a dermatologist and dermatocosmetologist. The prognosis is favorable. Under the influence of therapy or spontaneously, in some cases, prolonged and persistent remissions are possible, but recovery is impossible.