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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.
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 ...
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.
Neurofibromatosis type II (NF2 or NF II) is caused by mutations of the "Merlin" gene, [2] which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell ...
O n Nov. 18, 2014, Mats Steen died from Duchenne muscular dystrophy.The 25-year-old Norwegian video gamer had been diagnosed with the disease as a toddler, started using a wheelchair at age 10 ...
Treatment is mainly surgical; radiotherapy or chemotherapy is usually an indication of relapse. [clarification needed] Head and neck desmoid fibromatosis is a serious condition due to local aggression, specific anatomical patterns and the high rate of relapse. For children surgery is particularly difficult, given the potential for growth disorders.
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Frequency. rare (estimated at 1:46,000-1:75,000) [2] Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. [3] It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. [5][6] It is also known as neurofibromatosis type 1-like syndrome.