Neurofibromatosis 1 is a progressive disorder that affects multiple systems of the body. Management is currently focused on anticipatory guidance, genetic counseling, and symptomatic treatment of specific lesions, usually through surgery. Insights into pathogenesis of the disorder are beginning to suggest possible mechanisms of treatment, and clinical trials have begun for some types of lesions. The unpredictable natural history and variable phenotype present challenges for clinical trials in neurofibromatosis 1, which will need to be addressed to develop a system for reliable testing of potential therapies. (J Child Neurol 2002;17:642-645).
Get full access to this article
View all access options for this article.
References
1.
Rasmussen SA , Yang Q., Friedman J.: Mortality in neurofibromatosis 1: An analysis using U.S. death certificates. Am J Hum Genet2001;68:1110-1118.
2.
Korf BR: Plexiform neurofibromas. Am J Med Genet1999 ;89:31-37.
3.
Korf BR: Malignancy in neurofibromatosis type 1. Oncologist2000;5:477-485.
4.
King AA, Debaun MR, Riccardi VM, Gutmann DH: Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet2000;93:388-392.
5.
Ducatman B., Scheithauer B., Piepgras D., et al: Malignant peripheral nerve sheath tumors: A clinicopathological study of 120 cases. Cancer1986;57:2006-2021.
6.
Hefti F., Bollini G., Dungl P., et al: Congenital pseudarthrosis of the tibia: History, etiology, classification, and epidemiologic data. J Pediatr Orthop B 2000;9:11-15.
7.
Stevenson DA : Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet1999;84: 413-419.
8.
North KN, Riccardi V., Samango-Sprouse C., et al: Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force. Neurology1997;48:1121-1127.
9.
Huson SM, Harper PS, Compston Das: Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain1988;111:1355-1381
10.
Chichowski K., Shih TS, Schmitt E., et al: Mouse models of tumor development in neurofibromatosis type 1. Science1999;286: 2172-2176.
11.
Zujewski J. , Horak ID, Bol CJ, et al: Phase I and pharmacokinetic study of farnesyl protein transferase inhibitor R115777 in advanced cancer. J Clin Oncol2000;18:927-941.
12.
Riccardi VM : A controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching. Arch Dermatol1993;129:577-581.
