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  2. Neurofibromatosis type I - Wikipedia

    en.wikipedia.org/wiki/Neurofibromatosis_type_I

    Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...

  3. Neurofibromatosis - Wikipedia

    en.wikipedia.org/wiki/Neurofibromatosis

    Neurofibromatosis type I is the most common of the three types and is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation.

  4. Neurofibromatosis type II - Wikipedia

    en.wikipedia.org/wiki/Neurofibromatosis_type_II

    NF2 is a life limiting condition. It is a rare genetic disorder that involves noncancerous tumors of the nerves that transmit balance and sound impulses from the inner ear to the brain. The prognosis is affected by early age onset, a higher number of meningiomas and schwannomas and having a decrease in mutation. [25]

  5. Neurofibroma - Wikipedia

    en.wikipedia.org/wiki/Neurofibroma

    A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system.In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor [1] or sporadic neurofibroma [1]), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease.

  6. Neurofibromin - Wikipedia

    en.wikipedia.org/wiki/Neurofibromin

    Instead, people with neurofibromatosis are followed by a team of specialists to manage symptoms or complications. [ 6 ] [ 32 ] However, in April, 2020, [ 33 ] the FDA approved selumetinib (brand name Koselugo) for the treatment of pediatric patients 2 years of age and older with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable ...

  7. Phakomatosis - Wikipedia

    en.wikipedia.org/wiki/Phakomatosis

    Main symptoms of neurofibromatosis type I. [7] Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [8] Neurofibromatosis type 1 is the most common phakomatosis and it affects approximately 1 in 2500-3000 live births. [9] It is a genetic disorder due to a germline mutation in the NF1 gene.

  8. Congenital pseudarthrosis of the tibia - Wikipedia

    en.wikipedia.org/wiki/Congenital_pseudarthrosis...

    Age of diagnosis is one of the factors as fractures in older patients are associated with better prognosis. This could be due to the greater cross-sectional bone area, allowing for lower refracture rates. [1] [6] Early diagnosis and surgical treatment before the disease progresses is also associated with favourable results and minimized ...

  9. Legius syndrome - Wikipedia

    en.wikipedia.org/wiki/Legius_syndrome

    Neurofibromatosis 1-like syndrome [1] This condition is inherited in an autosomal dominant manner. Symptoms: café au lait spots; +/- learning disabilities [2] Usual onset: at birth: Causes: Mutations in the SPRED1 gene [3] Diagnostic method: Clinical findings, Genetic test [4] Differential diagnosis: neurofibromatosis type I: Treatment

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