Flat, light brown spots on the skin
called ‘café au lait spots
What is NF1?
Neurofibromatosis (NF) is a rare, progressive, genetic condition, with the most common type being neurofibromatosis type 1 (NF1). NF1 can impact every organ system and be involved in the development of nonmalignant (non-cancerous) tumours that may affect the brain, spinal cord and nerves.1,2
NF1 is also one of the most common inherited disorders and is caused by a mutation or flaw in the NF1 gene. Half of all people with NF1 are estimated to inherit the mutation from a parent while the other half have no family history.1-3
What is NF1 PN?
Up to 50% of children with NF1 may develop non-malignant tumours on the nerve sheaths called plexiform neurofibromas (PN).6
PN can appear anywhere inside or outside of the body. They are often identified in infancy or childhood but may also appear later in a person’s life. Some PN can grow fast and become large, which can progressively interfere with normal physical functions. 6,7,8
Although PN may start as non-malignant, a small proportion (~10%) will later become cancerous.12
Initial signs of NF1 may include:
The severity of NF1 can vary significantly and people with the disease may not develop every symptom.6
Soft lumps on and under the skin
Neurofibromas
Patients with NF1 may also experience:
Reference.6
Freckling in unusual places
such as the armpits or groin area
Optic gliomas
Tumour that develops in the cells surrounding the optic nerve
Bone issues
Increased head size
Scoliosis
Back bone deformities
Small stature
Tiny bumps on the iris of the eye
called 'lisch nodules'
Delayed or early puberty
Developmental differences
Hypertension
High blood pressure
References
- Tamura R. Current understandings of neurofibromatosis type 1, 2, and schwannomatosis. Int J Mol Sci. 2021;22(11):5850.
- Ly Kl, et al. The diagnosis and management of neurofibromatosis type 1. Med Clin N Am. 2019;103:1035-1054.
- Solem EP, et al. Factors associated with parental knowledge of neurofibromatosis type 1 (NFI): parental affected status and genetic counseling. J Genet Couns. 2020:29:1151-1158.
- Bergqvist C, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis. 2020;15(1):37.
- Brosseau JP, et al. Translating current basic research into future therapies for neurofibromatosis type 1. British Journal of Cancer. 2020;123:178-186.
- Miller DT, et al. Health supervision for children with neurofibromatosis type 1. American Academy of Pediatrics. 2019;143(5).
- Hirbe AC, et al. Neurofibromatosis type 1: a multidisciplinary approach to care. The Lancet Neurology. 2014;13(8):834-843.
- Abdelmoughit E, et al. Plexiform neurofibroma of the thigh: management experience and review of literature. J Pioneer Med Sci. 2015;5:103-106.
- Fisher JM, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol. 2022,24(11):1827-1844.
- Bajaj, A. The neural pleonastics - neurofibroma. Journal of Clinical and Medical Images. 2020;5(4):1-6.
- Georgios T, et al. A review neurofibromatosis type 1: quality of life in children and adolescents. International Journal of Health Sciences. 2024;8(2):194-210.
- Knight SWE, et al. Malignant peripheral nerve sheath tumors - a comprehensive review of pathophysiology, diagnosis, and multidisciplinary management. Children. 2022;9(38):1-14.
- Lalvani S, et al. Neurofibromatosis type 1: optimizing management with a multidisciplinary approach. Journal of Multidisciplinary Healthcare. 2024;17:1803-1817.
- Jensen SE, et al. Lifespan development: symptoms experienced by individuals with neurofibromatosis type 1 associated plexiform neurofibromas from childhood into adulthood. J Clin Psychol Med Settings. 2019;26:259-270.
- Karajannis MA, et al. Neuofibromatosis-Related Tumors: Emerging Biology and Therapies. Curr Opin Pediatr. 2015;27(1):26-33.
Veeva ID: GL/UNB-NF1/0077