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Darier’s disease is genodermatosis from the group of keratosis disorders, the main features of which are dyskeratotic changes and acantholysis in the epidermis. The ailment is one of the most common causes of genodermatoses and is characterized by a family history. The course of the disease is much more severe in men than in women.
What is Darier’s disease?
The disease is the most common genodermatosis, an autosomal inherited skin disease characterized by abnormal keratosis in the mucosa, epidermis and nails. The disease occurs with a frequency of 1:30-000-50 births in various European countries. It is often said about its family occurrence (it reveals itself in several generations). Darier’s disease was first described by a French dermatologist, J. Darier in 000. Also in the same year it was described. It is commonly believed that the disease is much more common in men, who also have a much more severe course. Darier’s ailment is one of the skin diseases that not only causes a cosmetic defect in the patient, but also worsens the quality of life.
The causes of Darier’s disease
The defective ATP2A2 gene, which is located on chromosome 12q-24.1, is believed to be responsible for Darier’s disease. The essence of the disease is the disturbance of the desmosom-tonophilic complex, which is probably the result of the disturbance of the ion pump maintaining the concentration of calcium ions in the endoplasmic reticulum. Inheritance is autosomal dominant.
The factors that increase the severity of skin eruptions include:
- UV radiation,
- skin infections.
Darier’s disease – symptoms
The changes accompanying Darier’s disease are located on the skin in the seborrheic area, e.g .:
- central area of the torso,
- face,
- hairy scalp,
- smells,
- groin,
- mucous membrane,
- nails.
The onset of Darier’s disease occurs during adolescence or in young adults. Appearance of keratinized cone-shaped lumps with a size of a few mm located in the seborrheic areas, they concentrate or merge into larger eruptions oozing or covered with wet scabs. Blistering is rarely seen. In addition, there is often a bad smell associated with secondary infections in the maceration of the epidermis (armpits, groin), as well as itching and burning of the skin. There may be changes in the nipples in the form of stratum corneum.
She is also known linear form of the disease with an arrangement of lumps along the Blaschko line (morbus Darier zosteriformis). On the hands, there are fingerprint abnormalities, as well as characteristic papillary lesions on the dorsal surfaces of the hands with acrokeratosis verruciformis features. Nail changes are frequent, e.g .:
- defects in the distal parts of the plates,
- subungual keratosis,
- longitudinal white and pink streaks,
- nail dystrophy.
The oral mucosa shows clusters of white lumps on the palate and cheeks that can occupy a large area (“paving stones” image).
Diagnostics of Darier’s disease
The picture of Darier’s disease is distinctive. During microscopic examination in the epidermis, disceratosis (abnormal keratosis of single epidermal cells) and acantholysis, as well as products of abnormal keratinization of keratinocytes: corps ronds and grains (grains) in the upper part of the epidermis.
Acantholiza leads to the separation of keratinocytes above the basal layer, the formation of acantholytic fissures, with visible vertically oriented basal layer cells (comparable to the appearance of tombstones). Whereas disceratotic keratinocytes cause that in the granular, spinous and horny layers there are round cells with a spiky nucleus, a band of basophilic cytoplasm and cells with an elongated nucleus (located mainly in the stratum corneum and acantholytic fissures)
In addition, the result of the histopathological examination of the sample taken is important.
It is also important to differentiate Darier’s disease from other conditions, such as:
- seborrheic dermatitis – is characterized by excessive exfoliation of the epidermis and usually occurs in people in the puberty period;
- Hailey-Hailey pemphigus – a condition with a genetic basis, in which there are vesiculo-erosive changes;
- Grover’s disease – is a transient acantholytic dermatosis. It is accompanied by maculo-vesicular eruptions and acantholysis in histological examination.
How to cure Darier’s disease?
Treating Darier’s disease requires time and patience on the part of the patient and the specialist. It can sometimes be difficult, because it causes various skin symptoms, and there is no causal treatment (therefore the disease itself is incurable). During treatment, it is very important to avoid factors that exacerbate the disease, e.g. maintaining proper personal hygiene, avoiding excessive sweating and prolonged exposure to the sun.
Topical treatments include corticosteroids, antibacterial agents and retinoids. Corticosteroids are used to keep inflammation under control and their effects are moderate. Another good topical preparation is 1% 5-fluorouracil19. Retinoids should be taken in small doses as they can exacerbate the skin symptoms of the disease. On the other hand, focal changes are also influenced well by:
- dermabrazja21,
- electrocoagulation,
- ablation laser22,
- cryotherapy,
- surgical excision.
In patients accompanied by unbearable pruritus, it is recommended to use Hydroxyzine24. In addition, in patients with recurrent herpes, due to the high risk of generalized exacerbation of skin lesions, chronic use of Acyclovir is recommended in treatment18
IMPORTANT: Darier’s disease can be passed on to a child when only one parent is sick. Therefore, a specialist should always check whether there has been a previous history of this condition in the family.
What about the prognosis?
Darier’s disease worsens in the first years and then stabilizes. Subsequent exacerbations are most often caused by exposure to sunlight and infection with the herpes virus.
DIG. C-11. Darier’s disease. Callous, discolored lumps on the back.
DIG. C-12. Darier’s disease. Concentrated, conical lumps covered with moist crusts.
DIG. C-13. Darier’s disease. Overgrown conical lumps in the area of the sternal and thoracic folds.
Lit.: [1] Burns T., Breathnach S., Cox N., Griffi ths Ch.: Rook’s Textbook of Dermatology. Blackwell Science 2004, t. I; 34.57-34.111. [2] Braun-Falco O., Plewig G., Wolff H.H., Burgdorff W.H.C.: Dermatologia, red. wyd. pol. Gliński W., Wolska H., Wydawnictwo Czelej, Lublin 2002, t. I; 686-705. [3] Harper J., Oranje A., Prose N.: Textbook of Pediatric Dermatology. Black well Publishing 2006, t. II, 19.7-19.11.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House