Neurofibromatosis type I
Neurofibromatosis type I
Neurofibromatosis type I (pronunciation: neuro-fibro-matosis type one), also known as NF1, 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).
Etymology
The term "Neurofibromatosis" is derived from three words: "Neuro" referring to nerve, "fibroma" referring to fibrous tissue, and "osis" indicating a condition. The "type I" designation indicates the first of the two recognized types of this condition.
Symptoms
Symptoms of NF1 can include skin changes, such as café-au-lait spots and freckling in the armpits or groin, and growth of noncancerous tumors along nerves in the skin, brain, and other parts of the body. Some people with NF1 also have learning disabilities, vision problems, or other neurological problems.
Causes
NF1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. Neurofibromin helps regulate cell growth and keeps cells from growing too rapidly or in an uncontrolled way.
Diagnosis
Diagnosis of NF1 is based on specific clinical criteria, including the presence of certain signs and symptoms. Genetic testing can also be used to identify mutations in the NF1 gene.
Treatment
Treatment for NF1 is symptomatic and may include surgery to remove tumors, medication to control pain, and physical therapy to improve movement and strength. Regular monitoring is recommended to check for new tumors or complications.
Related Terms
External links
- Medical encyclopedia article on Neurofibromatosis type I
- Wikipedia's article - Neurofibromatosis type I
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