Neurofibromatosis Type 1
Neurofibromatosis Type 1 (pronunciation: neuro-fibro-matosis type one) is a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation). The tumors are usually harmless, but in some cases, they can lead to serious damage by compressing nerves and other structures.
Etymology
The term Neurofibromatosis is derived from three words: Neuro referring to nerves, fibroma referring to fibrous tissue, and osis indicating a condition or disorder. Type 1 indicates that it is the most common form of the disorder.
Symptoms
The symptoms of Neurofibromatosis Type 1 can vary widely. Common symptoms include:
- Café-au-lait spots: Flat patches on the skin that are darker than the surrounding area.
- Neurofibromas: Benign tumors that are usually harmless but can cause serious damage if they compress nerves and other structures.
- Lisch nodules: Tiny, harmless areas of pigmentation in the iris of the eye.
- Learning disabilities: Problems with learning and thinking skills that are common in children with Neurofibromatosis Type 1.
Causes
Neurofibromatosis Type 1 is caused by a mutation in the NF1 gene. This gene provides instructions for making a protein called neurofibromin, which helps regulate cell growth. A mutation in the NF1 gene leads to the production of a nonfunctional version of neurofibromin, allowing cells to grow and divide uncontrollably.
Diagnosis
Diagnosis of Neurofibromatosis Type 1 is based on clinical criteria. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Neurofibromatosis Type 1. Treatment is symptomatic and supportive, and may include surgery to remove tumors, medication to control pain, and physical therapy to improve mobility.
See also
External links
- Medical encyclopedia article on Neurofibromatosis Type 1
- Wikipedia's article - Neurofibromatosis Type 1
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