### Date : 2024-06-23 20:30 ### Topic : Pemphigus Vulgaris #Medicine #infectology #dermatology #autoimmunedisease ---- ### Pemphigus Vulgaris Overview **Pemphigus vulgaris** is a rare, chronic autoimmune disorder characterized by the formation of painful blisters and erosions on the skin and mucous membranes. It occurs when the immune system mistakenly attacks proteins in the skin and mucous membranes, leading to a loss of cell adhesion and blister formation.  <Photo from: https://www.sciencephoto.com/media/1192162/view/pemphigus-vulgaris-lesions> ### Pathophysiology 1. **Autoimmune Response:** - The body produces autoantibodies against **desmogleins**, which are proteins crucial for cell-to-cell adhesion in the epidermis (specifically desmoglein 3 and, in some cases, desmoglein 1). 2. **Loss of Cell Adhesion:** - These autoantibodies disrupt the adhesive function of desmogleins, causing keratinocytes to separate from each other, a process known as acantholysis. 3. **Blister Formation:** - The separation of keratinocytes leads to the formation of intraepidermal blisters that eventually rupture, leaving painful erosions. ### Clinical Features **Symptoms:** - **Blisters:** Soft, flaccid blisters that break easily, leading to painful erosions. These blisters often start in the mouth and can spread to other areas of the skin. - **Erosions:** Painful, raw areas where blisters have ruptured. - **Mucosal Involvement:** Often affects the mucous membranes of the mouth, throat, genitals, and other areas. - **Nikolsky Sign:** Positive; gentle pressure on the skin can cause the epidermis to slough off. **Appearance:** - Blisters may be filled with clear fluid and are easily ruptured. - Erosions may appear red and raw, often accompanied by crusting or oozing. ### Diagnosis **Clinical Evaluation:** - Detailed patient history and physical examination focusing on the presence and distribution of blisters and erosions. - **Nikolsky Sign Test:** Positive in pemphigus vulgaris, indicating a loss of skin integrity. **Laboratory Tests:** - **Skin Biopsy:** - **Histopathology:** Shows intraepidermal acantholysis and separation of keratinocytes. - **Direct Immunofluorescence:** Detects the presence of IgG and C3 deposits in the intercellular spaces of the epidermis. - **Indirect Immunofluorescence:** - Detects circulating autoantibodies against desmogleins in the patient’s serum. - **ELISA (Enzyme-Linked Immunosorbent Assay):** - Measures the levels of autoantibodies against desmoglein 1 and desmoglein 3. ### Example Case Study **Patient Profile:** - **Name:** Jee Hoon Ju - **Age:** 52 - **Occupation:** Accountant **Medical History:** - **Symptoms:** Painful oral ulcers for the past few weeks, followed by the appearance of flaccid blisters on the trunk and extremities. - **Clinical Evaluation:** Positive Nikolsky sign; several erosions and blisters on the skin and oral mucosa. **Laboratory Tests:** - **Skin Biopsy:** Shows intraepidermal acantholysis. - **Direct Immunofluorescence:** Positive for IgG and C3 in intercellular spaces. - **ELISA:** Elevated levels of autoantibodies against desmoglein 3. **Diagnosis:** Based on clinical presentation and laboratory findings, Jee Hoon Ju is diagnosed with pemphigus vulgaris. ### Management 1. **Immunosuppressive Therapy:** - **Corticosteroids:** High-dose oral prednisone to reduce inflammation and autoantibody production. - **Adjuvant Immunosuppressants:** Such as azathioprine, mycophenolate mofetil, or cyclophosphamide to reduce the dose and side effects of corticosteroids. - **Rituximab:** A monoclonal antibody targeting B cells, used in refractory cases or as a steroid-sparing agent. 2. **Supportive Care:** - **Wound Care:** Proper care of blisters and erosions to prevent infection and promote healing. - **Pain Management:** Analgesics to manage pain associated with blisters and erosions. - **Nutritional Support:** Ensuring adequate nutrition, particularly if oral intake is affected by painful mucosal lesions. 3. **Monitoring and Follow-Up:** - Regular follow-up visits to monitor disease progression and response to treatment. - Adjustment of medications based on clinical response and side effects. ### Prognosis - **Chronic Condition:** Pemphigus vulgaris is a chronic disease that requires long-term management. - **Remission:** With appropriate treatment, many patients can achieve disease remission, although relapses are common. - **Quality of Life:** The disease and its treatment can significantly impact the quality of life, necessitating comprehensive care and support. ### Conclusion Pemphigus vulgaris is a serious autoimmune blistering disorder that requires prompt diagnosis and aggressive management. The hallmark of the disease is the formation of painful blisters and erosions due to the loss of cell adhesion in the epidermis. A combination of immunosuppressive therapy and supportive care is essential to control the disease and improve patient outcomes. Regular monitoring and follow-up are crucial to manage this chronic condition effectively.