Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Stevens-Johnson Syndrome

What is Stevens-Johnson Syndrome?

• Stevens-Johnson syndrome (SJS) is a severe reaction that affects the skin
• This syndrome is part of a disease spectrum that includes toxic epidermal necrolysis (TEN), which is a more severe form
  • SJS is defined as 10% or less skin involved, whereas TEN involves more than 30% of the skin
• While early symptoms are vague, it can eventually result in severe skin damage
• The disease is considered a hypersensitivity reaction, in which a certain trigger results in immune cells, such as CD8+ T cells and CD4+ T cells, attacking body tissue
• Stevens-Johnson syndrome is a very rare condition; incidence rate is around 2.6 to 6.1 cases per million people annually
  • This amounts to around 300 cases each year in the US

How Do You Get it?

• This syndrome is believed to be an immune system disorder, which is triggered by infections or the use of certain medications
• Most cases occur in people under age 30
• Certain genetic factors are believed to predispose people to the condition, but in up to half of cases, a direct cause is unknown
• While viral infections and other illness can cause Stevens-Johnson syndrome, medications are linked to the illness in the majority of cases
  • The most common cause is a class of drugs called sulphonamides, or sulfa drugs, which are a type of antibiotic
  • Up to 200 different drugs may be linked to the syndrome, including very widely used over the counter medications, such as ibuprofen
    • Other examples include cefixime, penicillin, anticonvulsants, barbiturates, and phenytoin, among others
• Unfortunately, there is no clear-cut test to link a specific drug to Stevens-Johnson in a particular case
• Infections are the more common cause in children, such as cytomegalovirus, Epstein-Barr virus, pharyngitis, HIV/AIDs, among many others

What Are the Symptoms?

• Initial symptoms of Stevens-Johnson syndrome are vague and may include fever, fatigue, and sore throat
  • These vague symptoms are frequently misdiagnosed and may result in increased use of the triggering drug
• As the disease progresses, more severe symptoms appear, such as:
  • Burning eyes and skin
  • Ulcers in the mucus membranes, including the mouth, lips, anus, and genitalia
  • Conjunctivitis
  • Lesions on the face, torso, soles of the feet, and limbs
  • Ulcers cause severe pain that can prevent patients from eating, drinking, and swallowing

How Is It Treated?

• As symptoms progress, patients often require emergency treatment in the ICU or burn unit
• In the acute phase of the disease, treatment is primarily symptomatic and supportive
• Use of corticosteroids is a subject of intense debate, with some evidence suggesting it worsens the disease course
• Intravenous immunoglobulin (IVIG) has shown some potential in improving symptom severity
• An ophthalmologist should play a role in care as Stevens-Johnson syndrome can result in the formation of scar tissue within the eyelids
• The syndrome has a mortality rate of around five percent
• Outcomes generally improve if the treatment team is able to recognize the causative drug and stop its use quickly

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the Stevens-Johnson Syndrome Foundation.