What Is Darier Disease?
Darier disease is a rare autosomal dominant genetic disorder. If one of the parents has an abnormal gene, the disorder can be transferred to the child, and maybe one of the parents may also have the disease. It is also known as keratosis follicularis or Darier-White disease.
It is characterized by wart-like blemishes on the body. These lesions are greasy, have a brown or yellow crust, and emit a strong odor. These are hard and scaly lesions that are progressive. It is mainly found in the scalp, forehead, upper arms, chest, knees, back, behind the ear, and elbows. The mucous membrane inside the oral cavity is also affected. The presence of red and white bands along the length of the nail is a characteristic feature of Darier disease.
Another form of Darier disease is the linear or segmental form. Blemishes in localized areas are the main feature of Darier disease. Nail abnormalities, as seen in typical Darier disease, may be present, but it does not spread all over the body like Darier disease.
It usually appears in the first or second decade of life (before 20 years of age) and can worsen due to sun exposure, humidity, trauma, and bacterial infections. A skin biopsy can be done to confirm the diagnosis. It can have an impact on the psychosocial well-being of the individual. With the right treatment, a complete cure is possible.
What Causes Darier Disease?
The mutation in the ATP2A2 gene causes Darier disease. It is passed onto the child if one of the parents has the mutated gene. In some cases, the disease can also appear with no family history due to the mutation of the gene.
This gene is responsible for giving instructions to the enzyme that helps control the level of calcium ions in the cells. Calcium ions are essential for proper cell functioning. The mutation in this gene can affect the synthesis of the enzyme that controls calcium level, which will affect cell function. The reason for these mutations affecting the skin alone is not well known yet.
What Are the Risk Factors That Aggravate Darier Disease?
The risk factors that aggravate Darier disease include;
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Sun exposure.
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Humidity.
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Trauma.
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Bacterial infections.
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Minor friction due to rubbing or scratching.
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Certain medications.
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Herpes simplex infection.
What Are the Clinical Features of Darier Disease?
The signs and symptoms of Darier disease usually appear before 20 years of age. It can affect both males and females. The clinical features will vary in each individual. Some will have only minor symptoms, whereas some may have widespread lesions. The severity of the disease will change over time.
The presence of greasy and scaly papules (solid raised spots on the skin less than 1 cm) in the scalp, neck, forehead, chest, back, skin folds, beard area, and around the side of the nose is a characteristic feature of Darier disease. The papules are firm, with a yellow crust, and feel like sandpaper. If these papules grow together, they can form wart-like lesions. If infected by bacteria, it can produce a foul odor.
Bleeding under the skin and small pits on palms and sole is also a characteristic of Darier disease. The presence of red and white stripes longitudinally on nails with V-shaped notching at the free edge also indicates the condition.
Darier disease also can affect salivary ducts, the roof of the palate, and the mucous membrane of the anus and rectum. The white cobblestone pattern of small papules in the mucous membrane is an uncommon feature of this disease.
Other atypical features include blistered papules, flat, freckle-like lesions, and large and raised warty lesions.
In the case of the linear form of the disease, the symptoms are restricted to a band of skin on one side of the body.
In some cases, affected individuals also suffer from neurological disorders like epilepsy, depression, and decreased intelligence.
How to Diagnose Darier Disease?
The diagnosis of Darier disease includes proper clinical examination and understanding of the patient's family history as it is a genetic disorder. A skin biopsy can be done to confirm the diagnosis. Genetic testing can be done to identify the mutation in the ATP2A2 gene.
What Are the Differential Diagnoses of Darier Disease?
The other conditions that can be similar to Darier disease include;
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Hailey-Hailey disease.
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Transient acantholytic dermatosis.
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Acrokeratosis verruciformis.
What Is the Treatment for Darier Disease?
The treatment for Darier disease includes some general measures that have to be taken in mild cases, medical management, and surgical management in severe cases.
The general measures include always using sunscreen while stepping out in the sun. Wear cool cotton clothing and avoid hot environments. Moisturizers with urea or lactic acid can be applied to reduce scaly lesions. If there is a foul odor from the lesion, then using antiseptics would help to prevent bacterial growth in the region.
Medical management involves treatment with topical retinoids. It can reduce hyperkeratosis in three months. It can be combined with topical corticosteroids and emollients (moisturizers) to reduce irritation. Severe cases are usually treated with oral retinoids like Acitretin or Isotretinoin. If there is a secondary bacterial infection, it can be treated with antibiotics.
Surgical repair includes dermabrasion that can smoothen the hyperkeratotic lesions (coarse lesions) of Darier disease. Dermabrasion is a skin resurfacing procedure. The outer layer of the skin is removed using a rapidly rotating device. Electrosurgery and laser ablation of the lesions can also be done.
Conclusion:
Darier disease can be controlled by following simple measures like avoiding the sun, using moisturizers, etc., as well as with proper medical or surgical management. The general health of the affected individual remains good regardless of the disease severity. In some cases, renal complications may be present. However, there can be some impact on psychosocial functioning, so mental support or counseling can be effective in such individuals.
