Head and neck manifestations of neurofibromatosis

The neurofibromatoses are one of four neurocutaneous syndromes inherited in an autosomal dominant pattern and characterized by generalized cutaneous neurofibromas. They are often associated with central and peripheral nervous system tumors, café-au-lait spots, skeletal abnormalities, and a myriad of associated abnormalities. Neurofibromatosis 1 (NF-1) and neurofibromatosis 2 (NF-2) are clinically and genetically distinct diseases. The diseased gene for NF-1 is the long arm of chromosome 17 and for NF-2 it is the long arm of chromosome 22. Universal signs for NF-1 include Lisch nodules (melanocytic iris hamartomas), optic nerve gliomas, and axillary freckling. The hallmark of NF-2 is bilateral acoustic neuromas. The incidence of head and neck lesions in NF-1 and NF-2 is approximately 37% with a 3.5% malignant transformation rate. A team approach is essential for management of both NF-1 and NF-2 due to multiple organ system involvement.