Researchers have identified the cause of an aggressive skin cancer that commonly affects people with Butterfly Syndrome, a rare skin disease that results in chronic blistering and extensive scarring.

An international team headed by researchers at Jefferson Health‘s Sydney Kimmel Cancer Center made the discovery, which was published Wednesday in the journal Science Translational Medicine.


The cancer – squamous cell carcinoma – is prompted by a group of enzymes that typically aid the immune system. But those enzymes instead attack the DNA of Butterfly Syndrome patients due to a consistent threat of microbial infection brought by the rare disease.

That attack, in turn, creates cancer-causing mutations that spur squamous cell carcinoma – a skin cancer that also can appear in the mouth, lungs and cervix.

Squamous cell carcinoma essentially amounts to a death sentence for people with Butterfly Syndrome. Their five-year survival rate is close to zero.

But the cancer – otherwise caused by sun exposure – remains curable among the general population if caught early.

Researchers also discovered that skin cancer among Butterfly Syndrome patients has more in common with oral cavity cancers than skin cancers caused by ultraviolet light.

That suggests therapeutic treatments used for oral cancers might be effective against skin cancers, according to senior researcher Andrew South, a Jefferson dermatology professor.

“We should be treating those cancers in the (Butterfly Syndrome) patients similarly to how we treat cancer in the oral cavity,” South said in a statement. “That‘s a direct clinical outcome from this research.”

Additional research will examine what triggers the enzymes to attack Butterfly Syndrome patients and look for ways to disable them.

The study, which gathered squamous cell carcinoma samples from labs and clinics throughout the world, primarily was funded by the Sohana Research Fund and EB Research Partnership. 

Debra International and the National Cancer Institute also provided funding.

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