Fighting NF1 PN Every Day

What are neurofibromatosis type 1 (NF1) plexiform neurofibromas (PN)?

NF1 is a rare genetic condition affecting 1 in every 3000 people worldwide. 30-50% of people with NF1 will develop PN.1 These tumors are highly variable in terms of size, shape, and growth rate, making it impossible to predict disease severity for any individual patient.1,2

Typically diagnosed in early childhood, neurofibromatosis type 1 (NF1) is a rare, progressive, genetic condition impacting multiple body systems characterized by benign tumors called plexiform neurofibromas (PN) that develop along nerve sheaths throughout the body.1,3-5 PN grow rapidly during early childhood, usually during the first decade after birth.3,6

During a child’s early years, the only visible sign may be areas of discoloration or subtle soft tissue overgrowth. Some plexiform tumors may be located so deeply within the body that they go unnoticed until pain or other symptoms become present.2

PN can be large and irregularly shaped, with a tendency to infiltrate beyond the nerve sheath into surrounding layers of tissue. They are often located in surgically challenging areas such as the head, neck, chest, or spine. In addition, PN tend to be overvascularized, which increases the risk of bleeding and the need for transfusion during surgery.2

Disease management is complex and requires a multidisciplinary approach to manage the physical symptoms and challenges that affect pediatric patients and their parents or caregivers.2,7

Potential complications of PNs 3,5,8-10

  • Disfigurement
  • Motor dysfunction
  • Pain
  • Airway dysfunction
  • Visual impairment
  • Bladder & bowel dysfunction


  1. Tonsgard JH. Clinical manifestations and management of neurofibromatosis type 1. Semin Pediatr Neurol. 2006;13(1):2-7.
  2. Korf BR, Rubenstein AE. Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals. New York, NY: Thieme Medical Publishers; 2005.
  3. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834-843.
  4. Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 2016;18(5):624-638.
  5. Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, et al. Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology. 2013;81(21 Suppl 1):S33-S40.
  6. Anderson JL, Gutmann DH. Neurofibromatosis type 1. In: Islam MP, Roach SE, eds. Neurocutaneous Syndromes. Waltham, MA: Elsevier B.V.; 2015:75-86. Handbook of Clinical Neurology. 3rd series; vol 132.
  7. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44:81-88.
  8. Mayo Clinic. Neurofibromatosis. Accessed October 11, 2021.
  9. NHS. Neurofibromatosis type 1, symptoms. 1/symptoms. Accessed October 11, 2021.
  10. Gross AM, Singh G, Akshintala S, et al. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. Neuro Oncol. 2018;20(12):1643-1651.

Victor, diagnosed with PNH at 27 years old
Now I know that others can benefit from my experience and I want to be an inspiration to them.”