Darier disease, also known as Darier-White disease or keratosis follicularis, is a rare genetic skin disorder that affects the way the skin cells bond together. The condition is named after the French dermatologist Ferdinand-Jean Darier who first described it in 1889. Darier disease is caused by mutations in the ATP2A2 gene, which provides instructions for making a protein called SERCA2.
The hallmark of Darier disease is the presence of small, raised, and rough bumps on the skin, particularly in areas of the body that experience friction, such as the scalp, forehead, chest, and back. These bumps, which are also known as papules, can become red and inflamed, and they may eventually develop into crusty or scaly patches. The affected skin can also be itchy, malodorous, and prone to bacterial or viral infections.
In addition to skin lesions, individuals with Darier disease may also experience other symptoms, such as nail abnormalities, such as red and white streaks, grooves, and ridges; oral lesions, such as white or grey patches on the mucous membranes of the mouth and throat; and a distinctive odor, due to the accumulation of bacteria in the skin.
Darier disease is an autosomal dominant disorder, meaning that an affected individual only needs to inherit one copy of the mutated ATP2A2 gene from either parent to develop the condition. If a parent has the condition, there is a 50% chance of passing it on to each of their offspring. However, not all individuals with the ATP2A2 gene mutation will develop Darier disease, and the severity of the condition can vary widely between affected individuals, even within the same family.
The diagnosis of Darier disease is usually based on a physical examination and the characteristic appearance of the skin lesions. Genetic testing can confirm the diagnosis and identify the specific mutation responsible for the condition. Treatment of Darier disease typically involves the use of topical or oral medications to reduce inflammation and prevent infection, such as retinoids, antibiotics, and antifungals. In some cases, laser therapy or surgery may be used to remove the skin lesions.
While Darier disease is a chronic condition that cannot be cured, with appropriate treatment, most individuals can manage their symptoms and live relatively normal lives. However, individuals with Darier disease are at an increased risk of developing skin cancer, particularly squamous cell carcinoma, so regular skin checks and follow-up with a dermatologist are essential.