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Understanding the Diverse Clinical Features of Neurofibromatosis Type 1

Individuals with Neurofibromatosis type 1 (NF1) are more likely to develop benign and malignant tumors of the nervous system. In addition, they are prone to numerous other medical problems, ranging from bone defects to seizures. Because of this heterogeneity, it is critical that treating physicians are aware of the diverse manifestations of this disorder.
A recent review of Neurofibromatosis type 1, published by Angie Hirbe, MD, PhD, a post-doctoral research fellow in the laboratory of Dr. David Gutmann at the Washington University NF Center, offers a detailed look at the clinical features and various tumours which frequently affect individuals with NF1.
Typically the earliest symptoms of NF1 are café-au-lait macules, followed by skinfold freckling and Lisch nodules, harmless pigmented lesions of the eye. Additionally, many individuals will also develop neurofibromas, skeletal deformities, neurocognitive deficits and cardiovascular abnormalities to varying degrees. Beyond the non-malignant clinical features, Hirbe reports a 15-20% incidence of low-grade central nervous system tumours, with roughly 80% occurring in the optic pathway. Individuals with NF1 also have an increased risk of developing other types of tumours, including glioblastomas (malignant brain tumors), malignant nerve tumors (malignant peripheral nerve sheath tumours), breast cancers, leukemia and lymphoma.
For this reason, Hirbe advocates a multidisciplinary approach to care, entailing a team of specialists, to ensure optimal management of people with NF1.
Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014.