What is Lupus Pernio?
Lupus pernio is a skin-related symptom of a disease called sarcoidosis, which was first identified by Ernest Besnier in 1889. It appears as a purple-colored shiny bumps on the head and neck, but it’s mainly found on the nose, cheeks, and ears. About 25% of people with sarcoidosis will have skin symptoms, which can help in diagnosing the disease. Lupus pernio can occur as a single skin lesion, or it can be one of the early signs of systemic sarcoidosis, which affects the whole body.
It’s significant because it can signal that a person is likely to develop systemic sarcoidosis, a condition that involves the whole body, which is why it is very important to thoroughly examine the patient. People with lupus pernio are more likely to have lung disease. This was proven in a study which reviewed 516 patients with sarcoidosis. Patients with lupus pernio or sarcoidosis affecting scar tissue had a higher likelihood of also having lung problems (64% and 40% respectively) compared to patients with erythema nodosum or other skin symptoms of sarcoidosis.
What Causes Lupus Pernio?
The cause of cutaneous sarcoidosis, a skin condition, isn’t fully known yet. The most accepted theory is that sarcoidosis happens due to a combination of genetic factors, issues with the immune system, and environmental triggers. The disease is characterized by inflammation in cells, forming what’s known as granulomas, and is believed to occur due to an overreaction of the body’s immune system to one or more unknown substances.
Exposure to metals such as beryllium, zirconium, and aluminum is linked to the development of granulomas resembling those found in sarcoidosis. This suggests that exposure to certain environmental factors could play a role in causing sarcoidosis. Some bacteria, like mycobacteria and cutibacteria (previously known as propionibacteria), have also been suggested as potential causes of sarcoidosis.
Risk Factors and Frequency for Lupus Pernio
Sarcoidosis, a disease that often affects the skin, is thought to occur in roughly 25% of patients. It’s a bit difficult to pinpoint the exact number of new cases each year because the symptoms can vary greatly, and many people show no symptoms at all. However, estimates suggest that each year, between 1 and 64 out of every 100,000 people might develop sarcoidosis depending on the group of people studied.
Research indicates that sarcoidosis is more common in northern Europe, specifically Sweden, where about 64 out of every 100,000 people have the condition. It’s also more frequently found in African women, and it typically affects individuals who are between 25 and 40 years old.
One particular type of sarcoidosis, known as Lupus pernio, usually starts later in life and is often seen in Black women.
Signs and Symptoms of Lupus Pernio
Lupus pernio typically appears as purple or red, hardened patches on the face, particularly the nose and cheeks. In some cases, these patches can also appear on the ears and, very rarely, the backs of hands and feet. It can range from small nodules on the nose to large patches spreading across both cheeks. These patches can slowly but progressively go deeper, affecting the cartilage and bone underneath, which can lead to physical disfigurement. Lupus pernio is linked to a higher chance of problems outside the skin, especially the respiratory system.
In one study, of 35 people with lupus pernio, 74% had systemic sarcoidosis (a condition that affects various organs of the body) with involvement of the chest area, and 54% reported upper respiratory tract disease. Taking these findings into account, if a patient has lupus pernio, they might need to be evaluated for systemic sarcoidosis.
Testing for Lupus Pernio
Diagnosing cutaneous sarcoidosis, a skin condition, usually involves recognising certain skin symptoms and confirming them with specific tests that look at the skin under a microscope. One specific type of cutaneous sarcoidosis, lupus pernio, is more likely to be associated with complications affecting other organs beyond the skin, most commonly the lungs.
Examining the skin lesions visually using an instrument called a dermatoscope can aid in spotting this type of skin disorder, but this method is not always conclusive. Therefore, any skin lesions that resemble lupus pernio should be physically removed and examined in a laboratory to confirm the diagnosis.
A full review of the patient’s medical history and a physical examination will help identify any complications beyond the skin. Initial tests for diagnosing cutaneous sarcoidosis include a chest x-ray and tests to evaluate lung function, as both aim to detect any lung-related complications. Blood tests could also be performed to check for inflammation markers such as C-reactive protein level and erythrocyte sedimentation rate. Although not unique to sarcoidosis, a high level of an enzyme called angiotensin-converting enzyme present in the blood can help doctors reach a diagnosis, but it only occurs in roughly 60% of patients with sarcoidosis.
If needed, further imaging such as high-resolution computed tomography (a specialized type of x-ray) of the chest, echocardiogram (a type of ultrasound test that uses high-frequency sound waves to create images of the heart), or x-rays of the hands and feet may be recommended based on the doctor’s suspicions. If initial tests don’t show any complications affecting other parts of the body, regular check-ups will still be necessary to monitor the disease, as symptoms can develop at any point during the course of the disease.
Treatment Options for Lupus Pernio
Lupus pernio is an uncommon type of skin condition due to sarcoidosis, which is harder to treat than other skin changes from this disease. It can lead to scarring and changes in appearance. There have been very few official trials to evaluate the best treatments for sarcoidosis, so our current knowledge comes mostly from small studies, look-back studies, and case reports. The initial treatment choice depends on the location, extent, and severity of the skin changes.
Typically, the first type of treatment for lupus pernio is a topical or local corticosteroid, often steroid injections like triamcinolone due to their better results. This treatment usually needs to be stronger to achieve good results and avoid scarring. Injections need to be repeated every few weeks till there is no sign of the disease.
Topical medicines called calcineurin inhibitors, such as tacrolimus ointment or pimecrolimus cream, are often used alongside steroids. This helps reduce the usage of steroids in patients needing long-term treatment or frequent use for stable disease control.
Oral corticosteroids like prednisone are brought in for patients with rapidly progressing skin lesions or for those causing changes in appearance. Once there is a response to this treatment, the prednisone dosage is gradually decreased on a weekly basis. If lesions appear again during this lower dosage period, patients might be started on a medicine called methotrexate.
Medications such as hydroxychloroquine, methotrexate, and minocycline are used for patients with more skin changes, or for patients not responding to initial treatments like corticosteroids. Choosing between these medications depends on a patient’s other health issues, contraindications, and tolerance to medication. Hydroxychloroquine requires an eye exam every year to monitor for potential harmful side effects.
The dosage for methotrexate varies depending on the severity of the lesions. It tends to work faster than hydroxychloroquine but requires regular blood tests every few months to keep an eye on side effects.
If the condition is unresponsive to treatments like methotrexate, hydroxychloroquine, and oral prednisone, medication that suppresses the inflammatory response in the body, named tumor necrosis factor-alpha inhibitors (like adalimumab and infliximab), might be recommended.
Thalidomide can also be considered for patients with resistant lupus pernio based on individual case studies and non-randomized research. However, its potential harmful side effects limit its usage. To get this medication, both the patient and the doctor need to be registered in a risk management strategy program.
Surgery to remove skin lesions from sarcoidosis is usually not suggested due to a high risk of recurrence in the surgical scars. However, reconstructive surgery can be pondered for improving the appearance of patients with major noticeable changes on the nose.
What else can Lupus Pernio be?
Sarcoidosis can sometimes show up as a very distinct skin condition called lupus pernio, which helps in easily recognizing it. However, other conditions can mimic the way lupus pernio looks, these include:
- Fungal infection
- Lupus vulgaris
- Berylliosis
- Lymphoma cutis
- Lupus erythematosus
- Tuberculoid leprosy
Usually, a skin check is enough to tell these conditions apart. In certain situations, though, a biopsy (a small sample of skin) may need to be taken and studied to confirm the diagnosis.
What to expect with Lupus Pernio
Lupus pernio is a condition that causes lesions that can slowly infiltrate or harden into the cartilage beneath the skin, which can lead to disfigurement. This form of the disease is more resistant to treatment than other skin-related manifestations of sarcoidosis, a disease that leads to inflammation in different parts of your body.
Lupus pernio can result in a more severe progression of sarcoidosis, with a more drawn-out course and significant chest and additional involvement of other body parts. To prevent the hardening and disfiguring effects of lupus pernio, early diagnosis and swift treatment are highly recommended.
Possible Complications When Diagnosed with Lupus Pernio
Lupus pernio, a skin condition, can cause hard, thick bumps on the face, altering the person’s appearance. When it spreads to the soft lining of the nose and the bone, inflammation and sores can cause a hole to form in the wall between nostrils. However, the most serious issues arise when the disease affects vital organs, such as the lungs, heart, or brain.
Common effects include:
- Hard, thick bumps on the face changing one’s appearance
- Inflammation and sores in the soft lining of the nose
- Hole in the wall between nostrils due to sores
- Complications affecting lungs
- Complications affecting heart
- Complications affecting the central nervous system
Preventing Lupus Pernio
If you are diagnosed with cutaneous sarcoidosis, it is important to understand that this is a long-term skin condition and it is often associated with lung issues, known as pulmonary sarcoidosis. It is crucial to have regular check-ins with your healthcare team to keep track of your disease progression and to monitor any side effects from the medications. Some patients may experience symptoms related to specific organs several years after the diagnosis, so being aware of these symptoms is important.
If you are prescribed a medication called methotrexate, it’s key to avoid pregnancy while taking it, because it can cause harm to a developing fetus. It is also recommended to get all necessary vaccines suitable for your age group before starting a treatment called anti-TNF-alfa antagonists, which are used to reduce inflammation in your body.
