Darier's disease is an inherited disorder characterized by the formation of small red or brown flakes and scabs on the chest and back. This condition occurs in the upper layers of the skin, where skin cells grow abnormally and do not bond together properly, leading to the formation of flakes. In addition, it causes local thickening of the top layer of skin, the stratum corneum, resulting in the formation of scabs.
What does Darier's disease look like?
Small scaly patches and crusts develop on the chest and back, especially on the shoulder blades, as a result of Darier's disease. It can also occur on the hairy head, neck and sometimes in body folds such as the armpits, groin and under the breasts. The extent of the condition varies from a few spots to an extensive outbreak.
Affected skin areas are more prone to infection because the skin is not intact, allowing bacteria, fungi or viruses to enter easily. This can lead to symptoms such as redness, swelling, pain, an unpleasant odor and fever.
What is the cause of Darier's disease?
Darier's disease is an inherited disorder caused by a mutation in the ATP2A2 gene. This mutation leads to disrupted production of proteins that normally ensure proper adhesion of skin cells. The "woeful flaw" in the DNA results in flakes and scabs. Individuals with this mutation can develop the disease, but some experience no symptoms.
How is the diagnosis made?
The diagnosis can be made based on the clinical picture. In some cases, a skin biopsy may be taken under local anesthesia for further examination under the microscope. DNA testing in specialized laboratories is possible but not routinely performed.
What is the treatment for Darier's disease?
Patients should avoid conditions that aggravate the condition, such as heat, high humidity, sweating and sun exposure. Care creams or ointments may be used to combat flaking. For infections, creams or ointments against bacteria or fungi are used, and antibiotics may be needed in severe cases.
In severe forms of the disease, the drug Neotigasone (acitretin) may be prescribed. This drug has a beneficial effect on skin diseases with cornification disorder but can cause side effects, including dry skin, dry lips and dry eyes. Women should not become pregnant while taking it.
What are the prospects?
Darier's disease often begins around puberty, gets slightly worse and improves in some patients as they age. However, it does not disappear completely. It is generally not a dangerous condition, but it can be perceived as a nuisance.