Patients Successfully Cured of a Rare, Deadly Skin Disease for the First Time

A rare and potentially life-threatening skin condition with devastating effects might finally have a cure.

What begins as a mild rash can quickly escalate, with over 30 percent of the skin blistering and peeling away in sheets. The condition typically starts on the face and chest before spreading to the mouth, eyes, and genitals.

Infections, organ failure, and pneumonia often follow, and the condition proves fatal in about one-third of cases. Survivors typically face a lengthy recovery process, requiring care similar to that given to burn victims.

Toxic Epidermal Necrolysis

This debilitating condition, known as toxic epidermal necrolysis (TEN), is an immune reaction triggered by certain medications. Although rare, affecting one to two million people worldwide annually, its onset is highly unpredictable.

TEN has been linked to over 200 medications and can affect individuals of all ages and ethnicities. However, it is more common in females and is 100 times more likely to occur in individuals with HIV.

Moreover, an international team of researchers, led by biochemists from the Max Planck Institute in Germany, claims to have cured seven patients with TEN or its milder variant, Stevens–Johnson syndrome (SJS), without any reported side effects.

“I am beyond proud of this incredible research collaboration that has already helped save multiple lives,” says biomedical researcher Holly Anderton from the Walter and Eliza Hall Institute of Medical Research in Australia. “All seven people treated with this therapy experienced rapid improvement and full recovery—staggering results that likely represent a cure for this condition.”

Life-Saving Treatment Halts TEN Progression in Critical Patient

One patient, a 59-year-old man, developed TEN on 35 percent of his body after starting lung cancer treatment. His extensive skin loss left him with a nearly 60 percent predicted risk of death. However, after receiving a novel immune inhibitor, his infection stopped progressing. Within 16 days, he was nearly fully healed.

However, the treatment involves a class of drugs called JAK inhibitors (JAKi), which work by suppressing an overactive immune pathway. In fact, using skin samples from TEN patients, scientists identified six proteins in the JAK/STAT pathway that are upregulated in those with the condition, revealing the pathway’s critical role in driving the disease.

The JAK/STAT pathway is a key contributor to skin inflammation, cell damage, and epidermal detachment in toxic epidermal necrolysis (TEN).

Using rodent models of TEN, researchers observed significant improvements in skin infections just one to three days after administering an oral JAK inhibitor.

Off-Label Use of JAK Inhibitors Shows Promise in Treating TEN and SJS

“Based on our compelling preclinical data and the urgent need for treatments in this devastating disease, we administered off-label JAK inhibitors to seven patients with TEN or SJS–TEN overlap,” explains the research team, led by biochemist Thierry Nordmann from the Max Planck Institute.

All seven patients responded positively to the treatment and were discharged in good health, setting the stage for future clinical trials.

To conclude, “Even after stopping the medication that triggered the reaction, recovery can take weeks,” says Holly Anderton. “The ability to rapidly halt the progression of this disease, as demonstrated in our study, represents a major improvement in the standard of care for patients facing this life-threatening condition.”

Read the original article on: Science Alert

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