Breakthrough treatment cures rare, deadly skin disease for 1st time
In a major breakthrough, a rare and deadly skin disease has been cured successfully. The disease, called toxic epidermal necrolysis (TEN), starts as a harmless rash, but can quickly progress to blister and peel off over 30% of the skin on the body. It usually starts from the face and chest before affecting other sensitive parts like the mouth, eyes, and genitals.
Complications and recovery
If untreated, TEN can cause serious complications such as infections, organ failure, and pneumonia. In about one-third of all cases, the condition is fatal. For survivors, recovery can take months and often requires treatment similar to that of burn victims. The disease is an immune response to medication and can affect anyone, regardless of age or ethnicity.
Global impact and unpredictability
TEN is a rare disease that affects one to two million people worldwide every year. It has an extremely unpredictable onset and can be triggered by over 200 different medications. The disease affects females more than males, and is 100 times more common among HIV patients. Now, an international team of researchers has successfully cured seven patients suffering from TEN or its less severe form, Stevens-Johnson syndrome (SJS).
Successful treatment of the patients
The research team, led by biochemists at the Max Planck Institute in Germany, treated the patients. All patients showed rapid improvement and full recovery without any reported side effects. One patient was a 59-year-old man who developed TEN across 35% of his body after starting lung cancer treatment. His predicted mortality risk was nearly 60%, but after taking a novel immune inhibitor, his infection stopped progressing and he was almost fully healed within 16 days.
How JAK inhibitors work against TEN
The drugs used in the treatment are called JAK inhibitors (JAKi) and seem to work by suppressing an overactive immune pathway. Scientists discovered the importance of this signaling pathway using skin samples of patients with TEN. They found six proteins involved in the JAK/STAT pathway that are upregulated in those with the skin infection. This pathway primarily drives skin inflammation, skin cell damage, and epidermal detachment.
Preclinical data and patient response to JAKi
Using rodent models of TEN, the researchers found that skin infections improved significantly one to three days after administering an oral JAK inhibitor. Based on these findings, they treated seven patients with TEN or SJS-TEN overlap using JAKi off-label. All patients responded positively to the treatment and were discharged in good health. This paves the way for future clinical trials and potentially a standard treatment for this life-threatening condition.
