Neurofibromatosis Type 1 (NF1) is a genetic disorder that primarily affects the skin and nervous system, and it can impact children. It leads to the formation of non-cancerous tumors called neurofibromas in various parts of the body and it is caused by mutations in the NF1 gene, which disrupt the production of a protein called neurofibromin.
It is important to be aware of the signs that may indicate the presence of neurofibromatosis:
- Café-au-Lait Spots: Light brown skin patches that can be an early sign of NF1.
- Neurofibromas: Soft tumors that develop on or under the skin and may increase in size.
- Freckling: In the armpits or groin area, another common characteristic.
- Lisch Nodules: Small pigmented nodules on the iris (dark brown spots) that do not affect vision.
- Optic Gliomas: Tumors on the optic nerves—watch for any vision problems.
- Bone Deformities: Excessive curvature of long bones or scoliosis.
- Cognitive or Behavioral Issues
- A known NF1 diagnosis in a relative or suspected symptoms in family members.
Treatment and Management
While there is no cure for NF1, proactive management can help address symptoms and complications. However, serious complications such as certain types of cancer may develop, potentially affecting life expectancy.
- Regular Monitoring: Routine check-ups with specialists to track the disease’s progression and detect any emerging issues early.
- Medication: Selumetinib is a MEK1/2 inhibitor used to treat NF1 in children and adolescents ≥3 years old with symptomatic, inoperable plexiform neurofibromas. Ongoing research is exploring new drugs that may slow tumor growth. In our center, selected patients benefit from treatment with Selumetinib.
- Surgical Intervention: Removal of tumors when necessary.
- Early Intervention: Addressing learning disabilities, bone abnormalities, and vision problems early can significantly improve outcomes.
- Multidisciplinary Care: A team including geneticists, dermatologists, neurologists, and ophthalmologists to manage different aspects of the disease.
- Psychological Support: NF1 can have an emotional impact on both the child and the family. Seeking psychological support and counseling services can help cope with the challenges associated with the condition.
- Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: NCBI
- Hwang J, Yoon HM, Lee BH, Kim PH, Kim KW. Efficacy and Safety of Selumetinib in Pediatric Patients With Neurofibromatosis Type 1: A Systematic Review and Meta-analysis. Neurology. 2022 Mar 1; 98(9): e938-e946. PubMed
- AAP Committee on Genetics. Health supervision for children with neurofibromatosis. Pediatrics. 2008 Mar; 121(3): 633–642. PubMed