Neurofibromatosis (Von Recklinghausen’s Disease): Definition, History, and Characteristics
Neurofibromatosis (NF), also known by its original name, Von Recklinghausen’s Disease, is a genetic disorder that affects the growth of neurons and other cell types in the nervous system. It is characterized by the growth of neurofibromas, benign tumors that can develop on nerves and surrounding tissues. The disorder is also associated with a number of other symptoms that can vary in severity and range from mild to severe. Neurofibromatosis is estimated to affect 1 in 3,000 people worldwide, making it one of the most common genetic disorders.
The disorder was first described in 1882 by German pathologist Friedrich Daniel von Recklinghausen, who noticed the presence of multiple neurofibromas in a patient. Since then, numerous medical advances have been made in the diagnosis and treatment of NF. The disorder is thought to be caused by mutations in the NF1 gene, which is located on chromosome 17. These mutations can be inherited from a parent, or they can arise spontaneously during embryonic development.
Neurofibromatosis is a progressive disorder that can affect multiple organ systems. The most common symptoms include the growth of neurofibromas, which can form anywhere on the body. Other common features include café-au-lait spots, which are areas of pigmentation on the skin, freckling in the armpits and groin, and skeletal abnormalities. Other symptoms may include scoliosis, facial deformities, vision problems, and learning disabilities.
In addition to these physical symptoms, those with NF can also be at risk for developing other conditions, such as high blood pressure, heart problems, and tumors of the brain or spine. The disorder can also have an emotional and psychological impact, as many people struggle to cope with the physical and social effects of the disorder.
Due to advances in genetic and medical technology, the diagnosis of NF is becoming easier and more accurate. Treatment is focused on managing the symptoms of the disorder and minimizing the risks associated with it. Treatment may include medications, surgery, physical therapy, and psychological and social support.
Neurofibromatosis is a complex disorder that can have a wide range of symptoms and effects. With the right diagnosis and treatment, however, the symptoms of NF can be managed and the quality of life improved.
References
American Neurofibromatosis Association. (n.d.). What is Neurofibromatosis? Retrieved from https://www.nfassociation.org/about-nf/what-is-nf
Friedman, J. M., & Gutmann, D. H. (2015). Neurofibromatosis Type 1. The New England Journal of Medicine, 373(19), 1837-1846. https://doi.org/10.1056/NEJMra1410409
Molecular Genetics of Neurofibromatosis Type 1. (2016). Journal of the American Academy of Dermatology, 74(1), 7-20. https://doi.org/10.1016/j.jaad.2015.07.053