Archives of Craniofacial Surgery (대한두개안면성형외과학회지)

Korean Cleft Palate-Craniofacial Association (대한두개안면성형외과학회)
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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)
  • Received : 2022.02.08
  • Accepted : 2022.02.18
  • Published : 2022.02.20
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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.

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References

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