Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome. It is a condition that affects many systems in the body and is caused by the loss-of-function mutations in the NF1, a tumor suppressor gene. The mutations lead to the production of nonfunctional tumor suppressor protein, neurofibromin, involved in downregulating the RAS signaling pathway. 1 Frequency 1 in 2500 individuals 1 Testing NF1 mutational analysis is usually indicated for patients with high clinical suspicion based on the clinical findings.
Individuals seeking prenatal counseling or children under the age of eight years are usually subjected to such analysis. 1 Therapeutic and preventive options include tyrosine kinase inhibitors, mTOR inhibitors, interferons, and radiofrequency therapy. 1 NF1 is characterized by cutaneous and extracutaneous findings. Extracutaneous findings of NF1 include:…
