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http://dx.doi.org/10.7181/acfs.2022.00633

Current concepts of neurofibromatosis type 1: pathophysiology and treatment  

Choi, Jaemin (Department of Plastic and Reconstructive Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine)
An, Sungbin (Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University)
Lim, So Young (Department of Plastic and Reconstructive Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Archives of Craniofacial Surgery / v.23, no.1, 2022 , pp. 6-16 More about this Journal
Abstract
Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity. From the perspective of plastic surgery, the most significant clinical symptoms, including disfiguration, peripheral neurologic symptoms, and skeletal abnormalities, are caused by various tumors originating from the affected nerves. Surgical removal is the standard of care for these tumors. However, the outcome is frequently unsatisfactory, facilitating the search for additional therapeutic adjuvants. Current trials of molecularly targeted therapies are promising.
Keywords
Neurofibroma; Neurofibromatoses; Physiopathology;
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