Inherited disorder that forms tumours in nerve tissues in different parts of the body: subcutaneous tissue, nerves in the brain and spinal cord. Most tumours are not malignant, although some may develop over time.
The cause is a mutation of the NF1 gene, 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 frequent symptoms are: 6 or more light brown spots of more than 5mm in diameter; 2 or more benign tumours called neurofibromas; freckles in the groin and/or armpits; two or more spots in the iris of the eye; a tumour in the optic nerve; bone deformities causing vertebral scoliosis or a larger cranial diameter, among others.
The disease should be suspected after a compatible clinical history and physical examination. For a definitive diagnosis, additional tests such as an eye and hearing/balance examination, imaging tests (X-rays, CT and/or MRI) and genetic testing will be required.
There is no cure for the disease so treatment is based on symptom control. In some cases surgery may be necessary to remove some tumours that compress tissues or damage organs.
The disorder is progressive, so it is very likely that symptoms will worsen over time. If you are looking to have a child and a parent or relative has this problem, it is recommended that you consult a genetic expert.
- 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
