The 49-year-old woman knew immediately upon waking up that something was amiss. Upon inspecting her body, she discovered several small blisters scattered around her bellybutton. Despite their small size, these blisters caused immense pain. They resembled the blisters one might get from wearing new shoes, except they were on her stomach. She chose loose-fitting clothing for work and tried to ignore the discomfort caused by the blisters. The pain persisted throughout the day, hindering her ability to concentrate. Upon returning home, she changed into a loose dress, only to find that one of the blisters had burst, leaving behind a sore red mark. Trying not to worry, she attributed it to her first week back in the office after working from home for months.
However, the next day brought additional blisters, followed by more the day after, until eventually her back and stomach were covered in a dozen of these peculiar bubbles. Another dozen had burst, resulting in sores that emitted clear fluid. At night, the blisters soaked through the gauze and her clothing, staining the sheets. Every movement she made further aggravated the wounds. Deciding to take a sick day, she began searching online for a dermatologist. After numerous calls, she managed to secure an appointment for the following day.
The physician assistant who attended to her immediately expressed concern. With 40 years of experience, the physician assistant had encountered a range of conditions, but this was far from ordinary. The patient mentioned that her skin had been exceedingly dry and itchy for months, but the blisters were a new development. After closely examining the woman, the physician assistant observed a few intact blisters and numerous open sores on her torso. It was possible that this was acne, and she provided a cream for that purpose. However, she also considered the potential for a skin infection and prescribed an antibiotic accordingly. The patient was instructed to return for a follow-up appointment in a couple of weeks to monitor progress.
Unfortunately, there was no improvement by the time of the patient’s next appointment. The physician assistant sought the assistance of a dermatologist, as it was evident that this was a blistering disease. One possibility was a disseminated infection called eczema herpeticum, which is caused by the herpes simplex virus. To combat this, the doctor prescribed a potent steroid cream in addition to an antiviral medication to be taken for a week. With confidence, she assured the patient that this course of treatment would resolve the issue. However, the blisters and subsequent seeping spots continued to appear over the next week. Another antibiotic and more steroid creams were prescribed. At this stage, every action she took caused pain. Blisters covered her arms, legs, back, stomach, mouth, and scalp. Sitting down became an impossibility; she could only perch on the edge of her chair. Realizing that a different approach was needed, the physician assistant referred the patient to another dermatologist.
The second dermatologist performed a thorough examination of the woman and suggested that she might be suffering from a condition called bullous pemphigoid. If this proved to be true, there were treatment options available. The physician assistant explained that bullous pemphigoid is a rare autoimmune disease where the body’s white blood cells produce antibodies that attack the connection between the skin and underlying tissue, resulting in the formation of blisters. High-dose steroids are commonly used to treat this disease, and once the symptoms subside, the steroids can be tapered off and discontinued. While the disease often resolves within a few months, it can persist for years. The patient began a daily regimen of 60 milligrams of prednisone. However, the side effects of the drug were unpleasant. She experienced insomnia, constant hunger, bloating, and a feeling of fullness. Additionally, she felt weak, and her legs felt heavy. Despite these challenges, the results were promising. The appearance of new blisters decreased, and the previous raw spots began to heal. After two months of taking prednisone, her skin improved, but she gained over 20 pounds, and her weakness became debilitating. Recognizing the severity of her condition and the improvement in her skin, the physician assistant decided to reduce her dosage. Unfortunately, new batches of blisters promptly emerged. The dosage was increased once again, but it was clear that an alternative approach was necessary. She needed to consult a doctor specializing in autoimmune diseases. The physician assistant mentioned that there were internet groups for patients with bullous pemphigoid who could provide recommendations for specialists. Following this advice, she found a group of individuals suffering from the same condition near her location on Long Island. They unanimously recommended Dr. Allireza Alloo, an associate professor and attending physician at the Zucker School of Medicine at Hofstra/Northwell.
Upon meeting his new patient, Dr. Alloo could see the exhaustion and frustration in her eyes. She had been uncomfortable in her skin for months, and the treatment had proven to be nearly as challenging as the disease itself. She shared that her symptoms started with an itch, which she initially attributed to her usual dry skin during winter. However, a couple of years earlier while on vacation in Hawaii, her skin began to itch severely despite the tropical climate. She purchased her usual winter creams, including moisturizers and low-dose steroid creams, and applied them regularly. While they provided some relief, the itch persisted. Eventually, she started developing painful canker sores, making it difficult to eat. The eruption of a canker sore limited her diet to soups and shakes. Finally, the blisters appeared. Dr. Alloo asked her to change into a gown and conducted a comprehensive examination of her skin. The blisters varied in size from a BB pellet to a quarter. They didn’t rupture or spread when pressure was applied, which distinguished them from the blisters associated with bullous pemphigoid. The skin covering the blisters was thin and almost transparent. Dr. Alloo understood why the previous dermatologists suspected bullous pemphigoid since that condition is typically preceded by intense itching before the appearance of blisters. Nevertheless, the blisters caused by bullous pemphigoid originate deeper in the tissue and are firmer than the ones she was experiencing. Dr. Alloo delivered the diagnosis, informing her that she had pemphigus vulgaris and reassured her that she would recover.
Pemphigus, derived from the Greek word for blister, was first described in the 18th century. Prior to the advancements of the 20th century, any disease that caused blisters was referred to as pemphigus. Pemphigus vulgaris, like bullous pemphigoid, is an autoimmune disorder but even rarer. In this disease, antibodies attack the connection between cells in the top layers of the skin, causing separation from the underlying layers. The Nikolsky test, an old diagnostic test, involved rubbing the healthy-looking skin adjacent to the blisters. In pemphigus, this skin often peeled off in thin sheets. Mouth sores are typically the initial symptom of this disorder. While the diagnosis used to rely solely on biopsy, there is now a blood test available to identify the specific antibodies responsible for the damage. Similar to bullous pemphigoid, treatment for pemphigus often involves steroids. If steroids prove inadequate or result in intolerable side effects, the next step is often rituximab, a medication that suppresses the immune system. By destroying the white blood cells responsible for producing the abnormal antibodies, rituximab resets the cellular level.
The patient received her first two doses of rituximab…