Genetics of Neurofibromatosis

Abstract
Neurofibromatosis is an autosomal dominant genetic condition that manifests by changes in the skin, nervous system, bone and endocrine glands. The changes in neurofibromatosis result from abnormal regulation of tissue growth and division. Neurofibromatosis affects both genders equally and is found in all ethnic groups. Carrier incidence at birth is 4 in 10,000 and the gene frequency is 2 in 10,000 people. Although the clinical presentation of neurofibromatosis may vary greatly, the most commonly found feature is the presence of rapidly growing skin tumors, neurofibromas. These lesions may appear anywhere on the body and could be quite disfiguring. Often, it is the presence of the skin lesions that brings the patient to the doctor's office for evaluation. These patients may also have hypertensive headaches, pathological fractures, brain tumors and short stature. Based on the tissues involved and the clinical presentation, two types of neurofibromatosis exist: neurofibromatosis type 1 (NF-1) and neurofibromatosis type 2 (NF-2). NF-1 and NF-2 are two different disorders as they result from different genetic mutations.

Read full article to learn about:

• Types and clinical features of neurofibromatosis
• Genetics of neurofibromatosis
• Patterns of inheritance and risk to family members
• Associated disorders
• Morbidity/mortality rates for patients with neurofibromatosis
• Screening and treatment options