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Why did Pemfeggs disease kill 90% of patients? How can modern treatments change that?
Pemphegos disease is a rare, persistent blistering skin disease, the most common form of which is Pemphegos bullosa. The disease's name comes from the Greek word "pemphix," which means blister. Its pathology is due to the production of antibodies against desmosomes, the tight junction structures between cells in the skin, which cause these structures to be attacked and destroyed, eventually leading to the separation of skin layers and the formation of blisters. Without treatment, the condition worsens over time and the damage can resemble a severe burn.
Before modern treatments, Pemfeggos disease had a mortality rate of nearly 90 percent. But with the introduction of corticosteroids as primary therapy, the mortality rate has dropped to approximately 5% to 15% today.
The disease primarily affects middle-aged to older adults, especially those between 50 and 60 years old, and women have historically been more likely to be affected than men. Typical symptoms include blisters inside the mouth, on the skin, and other mucous membranes. The blisters are often accompanied by severe pain, which can make it difficult for patients to eat, leading to weight loss and malnutrition.
PathophysiologyPemfungus is an autoimmune disease caused primarily by antibodies against two desmogleins, components of desmosomes that make up the tight junctions between cells. When desmosomes are attacked, the skin's adhesive properties are lost, causing the connections between keratinocytes to break down. This process is classified as a type II hypersensitivity reaction, where the antibodies bind to antigens on one's own tissues. Histologically, basal keratinocytes generally remain attached to the basement membrane, a characteristic appearance known as “tombstoning.”
Diagnosis is difficult
Due to the relative rarity of this disease, the diagnostic process is often complex and time-consuming. Early on, people may develop sores in the mouth or blisters on the skin, which may be itchy or painful. The gold standard for diagnosis is a needle biopsy around the lesion, which undergoes direct immunofluorescence staining and shows cells that lack normal cell attachment.
Currently, the diagnosis of Pemfeges disease is often confused with other skin diseases such as impetigo and Candida infections, so the diagnosis needs to be made with caution.
Treatment Change
Traditionally, steroids and other immunosuppressive drugs have been used to alleviate symptoms of Pemfitgos, although the severe and persistent side effects associated with steroids have prompted doctors to limit their use. In recent years, rituximab has gradually become the preferred alternative for treatment and was fully approved by the FDA in 2018.
EpidemiologyMany patients achieve remission after treatment with Remozolomide, with some cases showing no disease recurrence 10 years after treatment.
Pemfeggos bullosa is a relatively rare disease, with only 1 to 10 cases per million people worldwide. The estimated number of cases in the United States exceeds 14,000. Without treatment, 80 percent of patients die within a year, mostly from infection or excessive fluid loss.
Future Research Directions
Current research is focusing on using genetically modified T cells to treat Pembro disease, a technique that attempts to target the antibody-producing B cells and reduce the overall impact on the body. The scientists hope to introduce new treatments and explore other anti-CD20 medical strategies to expand treatment options.
Today, although advances in modern treatment techniques have significantly improved the prognosis of Pemfeggs disease, many treatment challenges still remain. How will scientists' future explorations into this disease change the quality of life for patients?
