Marker found for condition that causes numerous tumors

Author: Cathy Frisinger
Published On: 10/22/2018

DALLAS – Oct. 22, 2018 – UT Southwestern researchers have made a major advance in uncovering the biology of how thousands of disfiguring skin tumors occur in patients troubled by a genetic disorder called neurofibromatosis type 1 (NF1). This scientific advance could slow the development of these tumors.

NF1, which affects 1 in 3,000 people, has a wide spectrum of symptoms that include malignant tumors, high blood pressure, and learning disorders. While the skin tumors, which are called cutaneous neurofibromas, are most often noncancerous, they can number in the thousands and cover much of a patient’s body. They also can be painful or itchy, catch on clothing, bleed and become infected. Perhaps even more severe than the physical discomfort is the emotional distress. NF1 tumors can be severely disfiguring, like a layer of warts across the skin, and patients often dress to hide them.  

Currently, the only treatment for neurofibromas is surgical removal of the most uncomfortable and most disfiguring of the skin tumors. It would be impossible to remove them all.

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