Researchers reveal cause of aggressive skin cancer in patients with butterfly syndrome

IMAGE: New research shows that skin cancer cells in patients with butterfly syndrome have a pattern of genetic mutations that resembles a different kind of cancer, suggesting a potentially more effective… view more 

Credit: Laboratory of Andrew South, Jefferson (Philadelphia University + Thomas Jefferson University)

(PHILADELPHIA) – Patients with a rare skin disease, commonly called Butterfly Syndrome, that causes chronic blistering and extensive scarring also develop an aggressive and fatal form of cancer early in life. Now an international team of scientists led by researchers at the Sidney Kimmel Cancer Center – Jefferson Health finds that immune system-related enzymes are major contributors to the cancer’s development. The discovery identifies new therapeutic strategies and reveals how chronic inflammation can spur cancer.

“We’re describing for the first time a mechanism that instigates tissue damage-driven cancers,” said senior author Andrew South, PhD, an associate Professor in the department of Dermatology and Cutaneous Biology at Jefferson (Philadelphia University + Thomas Jefferson University) who published the work August 22nd in the journal Science Translational Medicine.

Dr. South studies a severe skin disorder called recessive dystrophic epidermolysis bullosa (RDEB). The genetic disease makes the skin incredibly fragile–even the slightest touch can cause damage as the


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