Research at Vanderbilt University About Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis
Vanderbilt University Medical Center
- Stevens-Johnson syndrome
(SJS) and toxic epidermal necrolysis (TEN) are rare and serious disorders of
the skin across a spectrum of severity usually triggered by an extreme reaction
to an infection or medication. The disease presents like a severe burn where
the most superficial layer of the skin and top layers in the mouth, genital
tract and eyes are affected. This top layer of the skin dies. Since the skin is
the most important barrier to invaders this leaves a patient vulnerable to
death from severe infection.
- SJS/TEN affects
about 5 million people worldwide each year. It is often detected late, after it
has caused serious damage to the skin, eyes and lungs. In many cases, it is
fatal. Survivors often feel abandoned and fearful of medications and medical
care. Many remain in seclusion for the rest of their lives because of its
- Elizabeth Phillips, MD, of Vanderbilt University Medical Center, is an internationally renowned expert on SJS/TEN and other severe reactions to drugs. Dr. Phillips and her colleagues have been working to raise awareness of SJS/TEN among health care providers and lay people internationally. They are frequently called upon for advice on diagnosis and treatment of SJS/TEN. They can help give patients advice on drugs safe to take in the future and steer patients and their families away from drug that could represent a risk.
- The team at
Vanderbilt continue to identify genes and risk factors that are associated with
SJS/TEN and other serious immune mediated adverse drug reactions. The suspect
genes may differ depending on the patient’s ethnic background and the drug that
causes the reaction. There is a large number of gene-ethnicity-drug
combinations to be investigated. Sometimes the equation is simple and can lead
to a test being implemented into routine preventive care but often more
research is required to not only prevent SJS/TEN and other serious immune
mediated adverse drug reaction but define the mechanisms by which these
reactions occur. This is leading to discoveries that it is anticipated will
lead not only to prevention when possible but also to earlier diagnosis and
- Because of this
diversity, researchers need to obtain saliva samples and medical records from a
large number of patients so they can find patterns that will lead to better
strategies for prevention and management of SJS. They currently have samples
and records from 200 patients and need at least 500.
- Because the
syndrome is rare, they need to obtain samples and records from patients across
the United States and internationally through collaborations in Europe, Asia,
Africa and South America. It costs money to obtain and analyze the saliva
samples and records.
- Ultimately, the key to better understanding SJS/TEN is to analyze samples from family members of SJS patients who have the same gene but have tolerated the same drug without ill effects. This will help scientists understand other factors such as early life infections and immune events that may contribute to the later development of SJS/TEN.