It is an inherited disorder that causes tumors to form in nerve tissue in different parts of the body: subcutaneous tissue, brain nerves, and spinal cord. Most tumors are not malignant, but some can develop over time.
The cause is a mutation in the NF1 gene, which is located on chromosome 17. With this mutation, a protein that controls cell growth is no longer produced, allowing some cells to grow uncontrollably.
The most common symptoms are 6 or more light brown spots larger than 5 mm in diameter; 2 or more benign tumors called neurofibromas; freckles in the groin and/or armpits; two or more spots in the iris of the eye; a tumor in the optic nerve; bone deformities that cause scoliosis or a larger skull diameter, among others.
This condition should be suspected based on a compatible clinical history and physical examination. Additional tests such as ophthalmologic and hearing tests, imaging studies (x-rays, CT and/or MRI), and genetic testing may be required for a definitive diagnosis.
There is no cure for the disease, so treatment is based on symptom control. In some cases, surgery may be needed to remove some tumors that compress tissue or damage organs.The disorder is progressive, so it is very likely that symptoms will get worse over time.
If you are trying to have a child and a parent or family member has this problem, it is recommended that you see a genetic specialist.
- J. J. Orozco, A. Besson, M. Pulido, J. A. Ruiz, E. Linares, M. R. Sáez. Neurofibromatosis tipo 1 (NF1) revisión y presentación de un caso clínico con manifestaciones bucofaciales. Av Odontoestomatol. 2005;21(5): 231-239.
- MedlinePlus. Rockville. 2017. Neurofibromatosis-1; [citado el 12 de julio de 2017]. Disponible en: https://medlineplus.gov/spanish/ency/article/000964.htm.
- National Institute of Neurological Disorders and Stroke. Maryland. 2017. ¿Qué son las neurofibromatosis?; [citado el 12 de julio de 2017]. Disponible en: https://espanol.ninds.nih.gov/trastornos/las_neurofibromatosis.htm.
- UpToDate [Internet]. Waltham. 2017. Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis; [citado el 12 de julio de 2017]. Disponible en: http://www.uptodate.com/contents/neurofibromatosis-type-1-nf1-pathogenesis-clinical-features-and-diagnosis?source=search_result&search=neurofibromatosis+tipo&selectedTitle=2~150.
- https://www.nhs.uk/conditions/neurofibromatosis-type-1/symptoms/
- https://www.mayoclinic.org/es/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490
