Darier’s disease is an autosomal-dominant inherited skin disorder characterized by impaired keratinization of the epidermis, fingernails, and hair follicles. This keratinization disorder is also known as keratoderma and is very rare in congenital syndromes. Darier’s disease is named after the French dermatologist Ferdinand-Jean Darier, who first described the condition in 1899.
What is Darier’s disease?
Darier disease affects about 1 in 50,000 people. The syndrome is also known as Darier’s disease and dyskeratosis follicularis. The autosomal-dominant inherited cornification disorder progresses slowly and forms reddish-brown to dirty gray papules. Over time, these coalesce into larger plaques and eventually become papillomatous growths that are covered with greasy crusts or ooze. Affected patients often suffer from skin infections, especially herpes simplex virus. Excessive exposure to UV radiation or sunburn can trigger or exacerbate the uncomfortable skin lesions.
Causes
The skin disease is inherited in an autosomal dominant manner. This often involves spontaneous mutations affecting a calcium ATPase (ATP2A2) on chromosome 12 (gene locus 12q24.11). This plays an important role in the distribution of calcium in the cytoplasm of skin cells. The mutation causes a disturbance in protein production, which in turn causes a disturbance in skin cell differentiation. As a result, the keratinocytes die.
Symptoms, complaints, and signs
The disease is externally recognized by scaly, crusty papules that are reddish or grayish in color and often confluent. They occur mostly in the middle of the face, on the hairy head, in the anogenital region or in the posterior and anterior axillary line. Abnormal keratinization of the skin produces the characteristic punctate discontinuities on the papillary ridges of finger and toe pads. A brownish callus forms on the dorsum of the feet and hands. On the mucous membranes of the hard palate and cheeks, on the other hand, whitish papules often develop. Occasionally, these are also found on the rectal and genital mucous membranes. Finger and toenails may be pockmarked with furrows and reddish and whitish streaks. Irritation caused by sweating, UV light, moisture, or friction can damage the skin or cause itching. In addition, bacterial superinfections may occur and cause an unpleasant odor in the affected areas. Sometimes even cystic bone changes occur. Furthermore, there are clinical special forms that arise, for example, in connection with fever and heavy sweating.
Diagnosis and course of the disease
Darier’s disease occurs mostly in children and more frequently peripubertally. Approximately 70 percent of patients are between 6 and 20 years of age when the skin disease first appears, and the disease peaks during puberty. A typical feature of the syndrome is its unsteady course, in which episodes of the disease alternate with phases without symptoms. A complete regression of the symptoms is extremely rare. The syndrome occurs in different degrees of severity. The diagnosis is made by examining the papules and looking at the clinical picture. One of the features is papillomatosis, which is an enlargement and coarsening of the papillae of the connective tissue that protrude into the epidermis. They thicken and therefore result in an uneven skin surface. Hyperkeratosis, i.e. excessive keratinization, is also part of the clinical picture, as is premature single cell keratinization (dyskeratosis). Various main and secondary criteria are used for diagnosis. The main criteria include the characteristic appearance of the skin, itching and the individual and family history of the disease. Children, in particular, are often misdiagnosed with atopic dermatitis because Darier’s disease often also presents as dry skin at a young age.
Complications
Due to Darier’s disease, patients primarily experience discomfort on the skin. This is reddish and not infrequently affected by itching. Likewise, papules or pustules can form, significantly reducing the aesthetics.Especially in the middle of the face, the discomfort and symptoms can be very unpleasant and thus lead to inferiority complexes or greatly reduced self-esteem. Especially in children, Darier’s disease can lead to teasing or bullying. Most patients are ashamed of the symptoms. Furthermore, fever and not infrequently sweating may occur. Without treatment of the disease, changes in the bones can also occur, which have a very negative impact on the patient’s quality of life. Furthermore, Darier’s disease also enters the fingernails. With the help of antibiotics and through various creams, the symptoms of Darier’s disease can be significantly reduced and limited. Complications usually occur only if the disease is not treated. In most cases, the treatment itself leads to a positive course of the disease and there is no reduction in life expectancy.
When should you see a doctor?
Changes in the appearance of the skin are signs of a health condition that should be investigated by a doctor. If there is scaly skin, crusting or discoloration, a visit to the doctor is advisable. If the symptoms persist over several weeks or increase in intensity, consultation with a physician is necessary. Characteristic for Darier’s disease is an onset of irregularities on the face as well as on the top of the head. In order to clarify the cause as well as medical care at an early stage, a visit to the doctor should be made at the first symptoms. Growths, lumps as well as poplars should be presented to a physician. Since it is a genetic disease, the first symptoms appear in childhood during the natural development process. Parents are therefore urged to present their offspring to a doctor as soon as visual changes develop in direct comparison with children of the same age. In case of itching or a feeling of tension on the skin, there is a need for action. If open wounds develop, the affected person requires sterile wound care, as sepsis is imminent. In severe cases, sepsis can lead to premature death. For this reason, the patient should be examined by a doctor as soon as possible if there are any abnormalities in the wound. If emotional or psychological problems are evident due to the visual peculiarities, a visit to the doctor is recommended.
Treatment and therapy
Since Darier’s disease is a chronic disease caused by a defect in the genetic material, a complete cure is not possible. However, there are several treatment methods that relieve symptoms. External corticosteroids can be used to treat acute symptoms during an attack in the short term. In the case of a bacterial superinfection, antibiotics and antiseptic baths are also used. In addition, creams with a high water content provide pleasant cooling in this situation. In general, it is advisable to use ointments regularly to prevent the skin from drying out. In acute inflammatory phases accompanied by oozing, zinc ointments can provide relief. Powders are also helpful because they are gentle on the skin and do not cause new sores to develop. For internal use, drug treatment is often initiated. Here, doctors recommend taking retinoids, which are usually used to treat psoriasis and acne. They are available in capsule form as well as in creams, gels or as solutions. Since side effects may occur in this case and some retinoids may not be taken by pregnant women, the treatment should definitely be coordinated with a doctor in advance.
Outlook and prognosis
Darier’s disease offers a relatively good prognosis. The disease can be treated with medication and is purely externally noticeable. In addition, the symptoms usually occur only in one season. The life expectancy is not limited by the disease, since the individual symptoms can be completely cured in the course of therapy. Late effects are usually not to be expected. During an acute attack, the well-being is limited by itching and dandruff. However, antibiotics and antiseptic agents improve the symptoms. In addition, home remedies such as cooling compresses or soothing ointments from nature can also provide rapid relief from acute symptoms. The prognosis is determined by the dermatologist or an internist.He consults the previous course of the disease, the intensity of the relapses and the therapeutic measures to give the patient a perspective. This usually provides a relatively good estimate of how Darier’s disease will progress in the future. A causal treatment is not yet available. Because of the good therapeutic options, the prognosis is good overall and associated with few limitations for those affected, provided that treatment is given early.
Prevention
Although there is no way to prevent the inherited skin disease, certain precautions can be taken to better control the symptoms. When selecting skin care products, fragrances as well as colorants and preservatives should be avoided, as these can worsen the skin condition. The same sometimes applies to greasy ointments, which cause a build-up of heat. Dirt and bacteria often lead to skin inflammation, which is why good personal hygiene is particularly important for those affected. In addition, foods that contain a lot of calcium can irritate and affect the skin. Other factors that can aggravate the condition include lack of sleep, stress, excessive sunbathing and alcohol consumption.
Aftercare
In most cases, the options and measures for direct aftercare are significantly limited in Darier’s disease and, in the process, are often not even available to those affected. Therefore, the patient should ideally see a doctor at a very early stage to prevent the occurrence of other symptoms and complications. There can be no independent cure. If there is a desire to have children, genetic testing and counseling may be useful to prevent the recurrence of Darier’s disease in the offspring. In many cases, the symptoms can be significantly alleviated by taking various medications and using creams. If possible, no alcohol should be consumed when taking antibiotics. Furthermore, regular checks by a dermatologist are also very important in Darier’s disease, so that other damage can be detected and treated early. The disease itself does not usually reduce the life expectancy of the patient.
What you can do yourself
After there is no way to completely cure Darier’s disease, measures must be taken to provide relief to the affected person. Especially with skin care products should be well aware of ingredients. Dyes as well as fragrances and preservatives should not be included, as these can have a negative effect on the condition of the skin. Likewise, care should be taken with greasy ointments as they cause heat buildup. Dirt, bacteria and fungi can cause inflammation of the skin, so adequate personal hygiene is essential for sufferers. However, it is important to keep personal hygiene in moderation to promote the skin’s natural protective mechanisms. Dairy products often contain large amounts of calcium, which is irritating to the skin. Vegetable substitutes have a high vitamin E and C content in direct comparison, which can significantly improve the skin’s appearance. Smoking, stress, lack of sleep and excessive alcohol consumption as well as poor nutrition can also be associated with risks. All medications prescribed by the attending physician, should be taken in the prescribed period. Prescribed drugs can have side effects affecting the psyche, among other things, which (if present) must be investigated immediately. In addition, places where a lot of particulate matter and large amounts of exhaust fumes are generated should be visited less frequently if possible or replaced by an alternative.
