Every February, Rare Disease Month brings attention to conditions that affect only a small percentage of the population. Although these diseases are rare, they still have a devastating impact on the lives of those affected. One such condition is Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN)—two rare but severe skin reactions that require urgent medical care.
While SJS/TEN is life-threatening, it remains largely unknown to the public and even under-recognized in the medical community. This lack of awareness contributes to delayed diagnoses, mismanagement, and a struggle for adequate research funding. This Rare Disease Month, we’re shedding light on the importance of recognizing and supporting those affected by SJS/TEN.
How Rare is SJS/TEN?
SJS/TEN is one of the rarest life-threatening medical emergencies, affecting an estimated 1 to 2 people per million per year. Despite its rarity, the condition has a high mortality rate, with up to 35% of TEN cases being fatal, and patients often face lifelong complications.
Unlike many rare diseases that are present from birth, SJS/TEN can happen to anyone at any time. It is most often triggered by medications, including antibiotics, anticonvulsants, and allopurinol. Because SJS/TEN does not have a single genetic or hereditary cause, it is impossible to predict who will develop it, making prevention challenging.
Another alarming aspect of SJS/TEN’s rarity is the limited experience many doctors have in diagnosing it. Since the condition is so uncommon, many cases are initially misdiagnosed as common viral infections, allergies, or other skin conditions, leading to delays in stopping the triggering medication, which is a key factor in survival.
The Hidden Challenges of Rare Diseases
Being diagnosed with any rare disease can feel isolating, and SJS/TEN is no exception. The rarity of the condition creates several challenges for patients and healthcare providers, including:
1. Delayed Diagnosis and Treatment
Since most doctors do not encounter cases of SJS/TEN often, early symptoms like fever, sore throat, and eye irritation are often mistaken for another condition. By the time the skin symptoms appear, the condition has already progressed, making early intervention difficult.
2. Limited Research and Awareness
Compared to other diseases, SJS/TEN research receives little funding. Since the disease is rare, clinical trials are limited, making it harder to find effective treatments. More research is needed to:
● Identify better treatment options beyond supportive care.
● Develop early warning tests for those at risk.
● Improve long-term rehabilitation and mental health support for survivors.
3. Lifelong Health Complications
For those who survive SJS/TEN, the journey does not end with recovery. Many patients experience permanent complications, including:
● Chronic eye problems, including severe dry eye, scarring, and even blindness.
● Skin sensitivity and scarring, sometimes leading to disfigurement.
● Psychological distress, including PTSD and anxiety, due to the traumatic experience.
These long-term effects make post-recovery support essential, yet few resources exist to help survivors reintegrate into their daily lives.
Looking Ahead: Hope for the Future
While SJS/TEN remains rare, there is hope for better prevention, treatment, and awareness. Advances in pharmacogenetics have already identified genetic markers—such as HLA-B*1502—that can help predict a person’s risk of developing SJS/TEN when taking certain medications.
Additionally, increased research into drug safety and adverse reactions has the potential to reduce the number of new cases. By implementing stronger screening measures and improving early recognition, fewer people may develop SJS/TEN in the future.
However, more work still needs to be done. Advocacy efforts by patients, healthcare providers, and researchers are essential to ensuring that SJS/TEN is properly recognized, diagnosed early, and treated with urgency.
Why Rare Disease Awareness Matters
SJS/TEN may be rare, but for those affected, it changes everything. This Rare Disease Month, we encourage people to take a moment to learn about SJS/TEN, support rare disease research, and help amplify the voices of those living with conditions that often go unnoticed.
The more we educate, advocate, and support those with rare diseases, the closer we come to a world where no one faces these conditions alone.
REFERENCES
Marks, M. E., Botta, R. K., Abe, R., Beachkofsky, T. M., Boothman, I., Carleton, B. C., ... & Phillips, E. J. (2023). Updates in SJS/TEN: collaboration, innovation, and community. Frontiers in Medicine, 10, 1213889.
Harr, T., & French, L. E. (2010). Toxic epidermal necrolysis and Stevens-Johnson syndrome. Orphanet Journal of Rare Diseases, 5(1), 39.
Desai, S., Yasmeen, N., Amgoth, N., Rama Rao, A., Vidhya, B., & Ragaswetha, J. (2022). A glance on medication triggered rare disease—Stevens Johnson syndrome as global challenge in healthcare system. Impending Inquisitions in Humanities and Sciences (ICIIHS-2022), 484-486.
Cavero-Carbonell, C., Gimeno-Martos, S., Gras-Colomer, E., Páramo-Rodríguez, L., Alfaro, A., & Zurriaga, O. (2016). Stevens-Johnson Syndrome: identification of the risk factors in a rare disease. European Journal of Public Health, 26(Suppl 1), 376.
Rzany, B., Mockenhaupt, M., Baur, S., Schröder, W., Stocker, U., Müller, J., & Schöpf, E. (1996). Epidemiology of Erythema Exsudativum Multiforme Majus, Stevens-Johnson Syndrome, and Toxic Epidermal Necrolysis in Germany (1990-1992): Structure and Results of a Population-Based Registry. Journal of Clinical Epidemiology, 49(7), 769-773.
Lee, H. Y., Walsh, S. A., & Creamer, D. (2017). Long-term complications of Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN): the spectrum of chronic problems in patients who survive an episode of SJS/TEN necessitates multidisciplinary follow-up. British Journal of Dermatology, 177(4), 924-935.
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