What is Darier Disease?
Darier disease, also formerly known as keratosis follicularis, is a type of skin disorder that is usually inherited. It is uncommon and generally reveals itself around puberty through multiple red or brown bumps on the skin, changes to the nails, and changes in the mucous membranes, or the moist tissues that line certain parts of your body. These symptoms can worsen over time, often with exposure to sunlight. Darier disease is found all over the world and is grouped with other similar skin disorders, such as Hailey-Hailey disease and Grover disease.
What Causes Darier Disease?
Darier disease is caused by changes in a specific gene called ATP2A2. This gene is responsible for making a protein that acts like a pump, moving calcium within cells. When the gene is faulty, the pump doesn’t work properly, leading to cell damage.
There’s also a thought that bits of the faulty pump can build up within cells and cause damage.
This disease can vary a lot from person to person. Even though the gene causing the disease is inherited, its effects may not look the same for everyone. This means that not everyone with Darier Disease will have a family history of it, so the absence of a family history shouldn’t be used solely to rule it out.
The symptoms of this disease can get worse with sunlight, heat, bacterial infections, and physical irritation or injury.
Risk Factors and Frequency for Darier Disease
Darier disease is not very common—it affects roughly one in 100,000 individuals and is more likely to occur in men than women. Abnormalities in the regulation of calcium in a part of cells called the endoplasmic reticulum seems to contribute to the disease. Research has shown that people with Darier disease have a higher risk of developing heart failure, although not necessarily heart attacks.
It’s also been found that they might have an increased association with a malfunction in their pancreatic beta cells, which is something often seen in diabetic patients. Furthermore, a study in Sweden linked Darier disease with intellectual disabilities. Lastly, it might also be connected to bipolar disorder, as indicated by another investigation.
Signs and Symptoms of Darier Disease
Darier disease is a skin condition that appears as red or brown patches that are rough to the touch. Mostly, the disease commences on the upper trunk or neck. The patches can take a warty appearance or develop painful cracks, and unfortunately, they can often get infected. Furthermore, these sores can sometimes give off an unpleasant smell, which can be quite distressing. The condition aggravates with sun exposure, friction, heat, and sweat.
Apart from skin issues, Darier disease also shows up as red and white lines running lengthwise across the nails, creating a V-shaped notch at the tip of the nail along with fragile nails. Around half of the people with Darier’s disease show signs on the oral mucosa, which show up as firm red or white bumps. Although these bumps may form crust or ulcers, they usually do not cause any discomfort. Another aspect of Darier’s disease is its linkage with neurological abnormalities such as epilepsy and intellectual disability. Patients are also more likely to struggle with depression and mood disorders. Eye problems, like inflammation of the eyelids and dry eyes, may arise too.
- Red or brown patches
- Starts on the upper trunk or neck
- Warty patches or painful cracks
- Infections on the patches
- Unpleasant smell from sores
- Aggravated by sun exposure, friction, heat, and sweat
- Red and white lines on nails
- V-shaped notch at the nail tip
- Appearance of firm red or white bumps in the mouth
- Possibility of epilepsy and intellectual disability
- Higher probability of depression and mood disorders
- Possible eye issues such as inflammation of the eyelids and dry eyes
There are different types of Darier disease identified by their particular set of symptoms. Some people may have linear skin lesions due to gene mutation. Some present with an uncommon variant that is thought to be linked with trauma and some show a different gene mutation that causes changes in nails and pits in the palms and soles, usually in younger patients.
Testing for Darier Disease
Darier disease, a skin condition, is typically diagnosed by a combination of clinical examination and studying the disease in tissue samples. Information about family history can also help with the diagnosis. However, not all patients may remember their family history of the disease due to its varying symptoms. It’s important for doctors to also check for other skin issues such as staphylococcus or herpes lesions, which can complicate the disease’s appearance and possibly lead to severe health problems.
Treatment Options for Darier Disease
While there isn’t a cure for Darier disease, we can manage its symptoms and prevent triggers that worsen the condition. Avoiding triggers, like direct sunlight, hot temperatures, tight clothes, and friction, is crucial in preventing flare-ups. To do so, sufferers should keep out of the sun, dress in loose-fitting clothes, regularly use sunscreen, and maintain good hygiene. Since this disease is genetically inherited, patients could benefit from genetic counseling.
Cooling down the skin and applying topical creams could be useful, especially for potential infections and thickened skin growth. Creams containing lactic acid or urea can manage abnormal skin growth and flaking. Topical corticoids, often used in skin illnesses, can lessen inflammation and irritation in affected areas. These creams can also relieve itchiness, although this is mainly based on doctors’ experiences. Topical retinoids, which encourage skin cell renewal, can also improve abnormal skin growth. Washing with antiseptic solutions can prevent infections. In some cases, topical 5-fluorouracil has been an effective treatment.
Oral retinoids like acitretin, isotretinoin, and alitretinoin are also useful treatment choices. Innovations are also underway for a new drug, miglustat, which is used to treat Gaucher disease and Niemann-Pick disease. It can enhance the adhesion strength of skin cell structures, signaling hope for future treatment options for Darier disease. Other treatments can include topical calcineurin inhibitors, vitamin D analogues, naltrexone, laser treatment, and surgical removal of lesions.
What else can Darier Disease be?
When medical professionals are trying to diagnose Darier disease, they also consider several other skin conditions that may have similar signs or symptoms. Such conditions include:
- Acanthosis nigricans, which causes thick, dark, velvety patches on the skin
- Confluent and reticulated papillomatosis, which causes patches of discolored skin
- Seborrheic dermatitis, which typically affects the scalp and causes red skin and dandruff
- Acrokeratosis verruciformis of Hopf, which is characterized by flesh-colored flat growths on hands and feet
In addition, some diseases can look very much like Darier disease under the microscope. These include Hailey-Hailey disease, pemphigus vulgaris, and Grover disease.
When experts study Darier disease and Hailey-Hailey disease under the microscope, both show abnormal skin cell development and a breakdown of the skin’s top layer. Interestingly, both conditions show more severe changes in Darier disease. Even though both diseases show similar skin changes, they are caused by mutations in different genes. The Hailey-Hailey disease is caused by a mutation in a gene that codes for a particular protein. As a result, the proper processing of certain proteins that are vital for skin cells sticking together is disrupted. This does not seem to cause the same stress at a cellular level as happens in Darier disease.
In other words, similar skin conditions can cause different reactions and show different changes at a microscopic cellular level, which can indeed aid doctors in accurately diagnosing these conditions.
What to expect with Darier Disease
Darier disease is a lifelong condition that comes and goes. By staying away from known triggers and using the correct treatments, it’s possible to control the disease to some extent.
Possible Complications When Diagnosed with Darier Disease
People with Darier disease need to be careful because they are more likely to get serious skin infections caused by bacteria and viruses. These can be infections from the human papillomavirus, the herpes simplex virus, and poxvirus.
Preventing Darier Disease
Environmental elements, such as heat and humidity, can affect the manifestation of plaques and bumps in Darier’s disease. As such, sufferers often see an increase in skin lesions during the hotter, more humid summer months. The exposure to ultraviolet (UV) light, actions that lead to friction such as wearing tight clothing and minor injuries such as rubbing or scratching can also contribute to an increase in these skin disruptions. Even certain medications can bring about more of these lesions. Therefore, it’s important for those with Darier’s disease to be aware of these factors and take necessary precautions to prevent worsening of their condition.
