Introduction
Pemphigus vulgaris (PV) is an autoimmune disease that causes blisters on the skin and inside the mouth, nose, throat, eyes, and genitals.1 It causes the immune system to target cells in the mucous membranes and the epidermis unintentionally. Individuals with this condition produce autoantibodies that target desmogleins, which are proteins responsible for connecting skin cells. Skin becomes fragile when these linkages are broken, and fluid may accumulate between its layers to create blisters.
In this article, we will explore the causes and symptoms of pemphigus vulgaris so that you may be able to prevent contracting the disease yourself as well as recognise it and act accordingly.
Risk factors
Age and gender
PV commonly manifests in middle-aged and older individuals, with the highest incidence typically occurring between the ages of 40 and 60.1 Additionally, there is evidence suggesting that individuals assigned female at birth may be slightly more susceptible to the disease compared to those assigned male at birth.
Genetic predisposition
People with a family history of autoimmune disorders, including PV, may be at a greater risk of developing the condition. Research suggests that genetic factors significantly contribute to the likelihood of developing PV, highlighting the role of our genetic makeup in this process. Specifically, studies have shown that certain genes, particularly those within the major histocompatibility complex (MHC), interact with the disease, further underscoring the importance of genetic predisposition in the development of PV.2
Ethnicity
Ethnicity may also influence the risk of developing PV. For instance, studies have found that Ashkenazi Jews are more prone to PV, and people from regions like Southeast Europe, the Middle East, and India also exhibit higher rates of the condition.2 It's fascinating to observe how incidence rates can vary depending on geographic location, with some areas showing a higher prevalence of PV than others.
Environmental factors
Certain medications have been associated with the onset or worsening of pemphigus vulgaris (PV). Drugs like penicillin, captopril, and certain non-steroidal anti-inflammatory drugs, such as aspirin, are examples of potential triggers. Additionally, studies have explored whether bacterial infections, including those caused by Pseudomonas aeruginosa, Staphylococcus aureus, Proteus vulgaris (known to cause wound and urinary tract infections), and Legionella pneumophila are linked to PV.3 Other environmental factors, such as diet, stress, and immunization, have also been identified as potential contributors to the onset of PV.
Other autoimmune conditions
If you've had other autoimmune conditions like rheumatoid arthritis or lupus, you might be at a higher risk of developing PV too.
Immunological mechanisms
Imagine your body's defence system as a protective shield, constantly fighting off bacteria and viruses. With PV, our body's defence system turns against itself and us by disrupting the connections that keep our skin and mucous membranes intact, both of which are main defences against outside bacteria and viruses.
Desmoglein proteins
Think of desmoglein proteins as the glue that keeps our skin cells tightly bonded. With PV, these proteins become the target of our immune system's attack. It specifically targets desmoglein 1 (Dsg1) and desmoglein 3 (Dsg3) to weaken the bonds between skin cells.4
Disruption of cell adhesion
When our immune system attacks desmoglein proteins, it's like pulling apart the velcro that holds our skin cells together. This disruption leads to the formation of blisters, leaving our skin vulnerable and prone to painful lesions. Essentially, PV causes chaos in the delicate balance of our skin's structure, resulting in the characteristic blisters of the disease.
Clinical symptoms
Skin involvement
The characteristic feature of PV is the development of flaccid, fragile blisters on the surface of the skin. These blisters are often superficial and can rupture easily, leaving behind painful raw patches and sores. Lesions commonly appear on the scalp, face, chest, back, and areas where two surfaces of skin meet, such as the armpits. These blisters tend to be widespread and may affect both flexural and non-flexural surfaces of the body. Flexural areas, which are parts of the body that can bend or flex, include the elbows, backs of the knees, armpits, and groin.
Mucous membrane involvement
In PV, areas inside the mouth are frequently affected, with lesions presenting as painful erosions and ulcers. The buccal mucosa, palate, tongue, and gums are commonly involved, and these oral lesions can significantly impair eating, swallowing, and speaking, greatly impacting one’s quality of life. Additionally, involvement of the genital mucosa is common, leading to painful erosions and ulcerations. Lesions may affect the vulva, vagina, and penile mucosa (the inner skin of the foreskin), causing discomfort and affecting sexual function.
Severity grading
The severity of PV can vary widely, ranging from mild cases with limited body surface and mucosal involvement to severe cases with widespread blistering and mucosal erosions. The impact on a patient's quality of life can be profound, as the pain, discomfort, and functional limitations associated with blistering lesions and mucosal involvement can be debilitating. In severe cases, the condition may necessitate hospitalization and intensive management to control the symptoms and prevent complications.
Diagnosis
PV can be diagnosed through a combination of methods. During a physical examination, your doctor will assess the blisters, lesions, and crusts on your skin, often pressing on a normal-looking area near a blister to check if the skin easily detaches, a key indicator of PV.6 Your medical history is also important; the doctor will ask about your overall health and any medications you take regularly. A skin biopsy is often performed, where a sample from a blister is examined under a microscope to confirm the diagnosis. Additionally, blood tests are conducted to identify antibodies associated with PV, further aiding in the diagnosis.
Treatment options
Corticosteroids
Corticosteroid cream may be sufficient in managing minor cases of the condition. For others, oral corticosteroids like prednisone pills serve as the basis of their treatment. However, prolonged or excessive usage of corticosteroids can result in major adverse consequences, such as:
- Diabetes,
- Bone loss,
- An elevated risk of infection,
- Stomach ulcers, or
- Redistribution of body fat that gives the appearance of a moon face.6
Immunosuppressive medications
Medications such as cyclophosphamide, mycophenolate, and azathioprine are used to suppress the immune system and prevent it from attacking healthy tissue in conditions like pemphigus vulgaris. While these treatments can be effective, they carry a risk of serious adverse effects, including an elevated risk of infection due to their impact on the immune system.7
Additional drugs
If first-line medications are not effective, your doctor may recommend alternative treatments such as dapsone, rituximab, or intravenous immunoglobulin.7 These options can be considered to help manage the condition more effectively when initial treatments fall short.
Supportive care
Supportive care is crucial in the management of PV. Proper wound care is essential for managing lesions and preventing secondary infections. This includes using appropriate dressings and gently cleansing the affected areas to promote healing and reduce the risk of complications. Pain management is also a key component, as the pain associated with lesions, particularly oral ulcers, can be significant. Analgesic medications or topical anaesthetics may be necessary to relieve discomfort and improve the patient's ability to eat and drink.
FAQs
Can pemphigus vulgaris be cured?
While there is currently no cure for PV, treatment can effectively control disease and improve symptoms in many cases. With appropriate management, remission may be achievable, allowing individuals with PV to lead relatively normal lives.
What are the complications of pemphigus vulgaris?
Complications of PV may include:
- Bacterial infections of skin lesions,
- Scarring, and
- Significant difficulty in eating and hygiene due to mucosal involvement in the mouth
Is pemphigus vulgaris contagious?
No, PV is not contagious. It is an autoimmune disorder, meaning our immune system starts attacking us, in this case, it attacks the very tissues that hold our skin and mucous membranes together. Our body is mistakenly targeting the proteins responsible for keeping our cells linked.
Are there any lifestyle changes or precautions recommended for people with PV?
Individuals with PV may benefit from avoiding known triggers, such as certain medications or environmental factors that can worsen disease activity. Maintaining good oral hygiene and seeking medical advice for any signs of infection or worsening symptoms will also be helpful.
How long does it take to see improvement with treatment for pemphigus vulgaris?
The time frame for improvement with treatment varies depending on the severity of the disease and individual patient factors. Some patients may experience improvement within weeks to months of starting treatment, while others may require longer-term therapy to achieve the same amount of control over the disease.
Can pemphigus vulgaris affect my internal organs?
While PV primarily affects the skin and mucous membranes, severe cases may involve organ systems, including the possible involvement of internal organs such as the lungs or kidneys.
Summary
- Pemphigus vulgaris isn't just a skin condition – it's an autoimmune disease, where our immune system mistakenly attacks our skin and mucous membranes, forming painful blisters
- Factors like genetics, environmental triggers, and even infections can trigger this condition
- Symptoms often include blistering and erosions on our face, scalp, chest, and sensitive areas like our mouth and genitalia
- Diagnosing PV involves a series of tests, including physical exams, blood tests, and biopsies
- Treatment usually involves a combination of corticosteroids, immunosuppressive medications, and biologics tailored to our individual needs
- Identifying it early and getting comprehensive care from a team of specialists is key to managing PV, preventing complications, and improving patients’ quality of life
References
- National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH. Pemphigus. [Internet]. niams.nih.gov. National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH [updated January 2021; cited 12 March 2024]. Available from: https://www.niams.nih.gov/health-topics/pemphigus
- Vodo D, Sarig O, Sprecher E. The genetics of pemphigus vulgaris. Front Med (Lausanne). 2018 [cited 13 March 2024]; 5:226. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102399
- Adebiyi OT, Galloway DF, Augustin MS, Sinha AA. The multifactorial complexities of autoimmune development in Pemphigus vulgaris: Critical evaluation of the role of environmental and lifestyle “exposome” factors. Front Immunol. 2023 [cited 13 March 2024]; 13:1058759. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871583/
- Rehman A, Huang Y, Wan H. Evolving mechanisms in the pathophysiology of pemphigus vulgaris: a review emphasizing the role of desmoglein 3 in regulating p53 and the yes-associated protein. Life (Basel). 2021 [cited 13 March 2024]; 11(7):621. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303937/
- Grover S. Scoring systems in pemphigus. Indian J Dermatol. 2011 [cited 14 March 2024]; 56(2):145–9. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108511/
- American Academy of Dermatology Association, AAD. Pemphigus: Diagnosis and treatment. [Internet]. aad.org. American Academy of Dermatology Association, AAD [cited 15 March 2024]. Available from: https://www.aad.org/public/diseases/a-z/pemphigus-treatment
- Mayo Clinic Staff. Pemphigus. [Internet]. mayoclinic.org. Mayo Clinic [updated 27 September 2022; cited 15 March 2024]. Available from: https://www.mayoclinic.org/diseases-conditions/pemphigus/diagnosis-treatment/drc-20350409