Neurofibromatosis Type 1 is a rare genetic disorder characterized primarily by the occurrence of benign and malignant tumors.
Epidemiology
Neurofibromatosis Type 1 accounts for more than 90% of all neurofibromatoses and is therefore significantly more common than neurofibromatosis Type 21.
Genetics
The NF-1 gene encodes the tumor suppressor neurofibromin and is located on chromosome 172.
Diagnostic Criteria
The diagnosis of neurofibromatosis Type 1 requires that two or more of the following criteria be met3:
| Neurofibromatosis Type 1 Criterion |
|---|
| ≥ 6 café-au-lait spots, each with a greatest diameter of ≥ 5 mm in patients before puberty or a diameter of ≥ 15 mm in patients after puberty. |
| ≥ 2 neurofibromas regardless of type or at least one plexiform neurofibroma |
| Optic glioma |
| ≥ Lisch nodules |
| Distinct osseous abnormalities, such as sphenoid dysplasia or thinning of a long bone |
| First-degree relatives with neurofibromatosis Type 1 |
Associated Diseases
The following diseases are associated with neurofibromatosis Type 14 5:
- Aqueductal stenosis
- Macrocephaly
- Unilateral superior orbital defects (pulsatile exophthalmos)
- Cognitive impairment
- Kyphoscoliosis
- Syringomyelia
- Intracranial tumors (hemispheric astrocytoma, solitary or multicentric meningioma)
- Extracranial tumors (schwannomas, neuroblastoma, sarcoma, leukemia, Wilms' tumor, pheochromocytoma)
- Moyamoya disease
References
Riccardi, Vincent M. "von Recklinghausen neurofibromatosis." New England Journal of Medicine 305.27 (1981): 1617-1627. ↩ ↩ ↩ ↩
Neurosurgery Case Review: Questions and Answers. Remi Nader, Abdulrahman J Sabbagh. 2020 Thieme Verlage. ISBN 9781626231986 ↩ ↩
Martuza, R. L. "Neurofibromatosis and other phakomatoses." Neurosurgery. New York: McGraw-Hill 1 (1985): 511-521. ↩ ↩
National Institutes of Health. "National Institutes of Health consensus development conference statement: neurofibromatosis." Neurofibromatosis 1 (1988): 172-178. ↩ ↩