PPM –Neurofibromatosis-Type 1 (NF1)-Description and References

Description and References

Pdf Summary

Neurofibromatosis Type 1 (NF1) is a genetic disorder that affects multiple systems in the body. It is caused by mutations in the NF1 gene and is characterized by features such as café au lait spots, neurofibromas, freckling, and nodules. In some cases, patients with NF1 may also develop central nervous system tumors, scoliosis, and vasculopathy.<br /><br />To manage NF1, a multidisciplinary approach involving geneticists, ophthalmologists, neurologists, dermatologists, surgeons, and oncologists is recommended. Regular surveillance is important and should include physical examinations, eye examinations, developmental assessments for children, blood pressure monitoring, and cancer screening.<br /><br />The incidence of NF1 is estimated to be 1 in 2600 to 1 in 3000 individuals, and about half of the cases are caused by de novo mutations. Genetic testing may be considered for patients with confirmed or suspected NF1 to further understand genotype-phenotype correlations.<br /><br />The module cites several literature references, including a study on the birth incidence and prevalence of tumor-prone syndromes in the UK, a clinical practice resource from the American College of Medical Genetics and Genomics (ACMG) for the care of adults with NF1, a GeneReview publication on NF1, and a Pediatrics article on NF1 by Miller et al. These resources can provide further information on the evaluation and management of NF1.<br /><br />Overall, this module aims to help participants recognize the complications associated with NF1, provide appropriate cancer surveillance, and facilitate timely imaging and specialist referral for individuals with NF1.

Keywords

Neurofibromatosis Type 1

NF1

genetic disorder

NF1 gene mutations

café au lait spots

neurofibromas

freckling

nodules

central nervous system tumors

multidisciplinary approach