Neurofibromatosis type 1 (NF-1) is one of the more common autosomal dominant genetic traits, affecting one in 2500 persons. Although the gene responsible has been mapped to chromosome 171 and more recently isolated,2,3 the chain of molecular events from the altered protein responsible for NF-1 to the disease manifestations (such as the growth of cutaneous neurofibromas and cafe-au-lait macules) is not clearly understood. Moreover, the molecular understanding thus far achieved does not directly lead to a method for altering that chain of events.
This leaves the dermatologist and other physicians evaluating patients with NF-1 relatively unaffected by the recent molecular genetic advances. Patients are often referred to a dermatologist for the initial diagnosis of NF-1. In isolated cases, which constitute approximately 50% of the patients, diagnosis is based on physical examination and a history demonstrating the presence of two of the seven criteria4: six or more cafe-au-lait macules, two or more neurofibromas, Lisch nodules,
Meyer LJ. Drug Therapy for Neurofibromatosis?. Arch Dermatol. 1993;129(5):625-626. doi:10.1001/archderm.1993.01680260095014