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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.
Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1), a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous ...
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.
Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular ...
Oncology. The term fibromatosis refers to a group of soft tissue tumors [1] which have certain characteristics in common, including absence of cytologic and clinical malignant features, a histology consistent with proliferation of well-differentiated fibroblasts, an infiltrative growth pattern, and aggressive clinical behavior with frequent ...
Crowe sign. The Crowe sign or Crowe's sign is the presence of axillary (armpit) freckling in people with neurofibromatosis type I (von Recklinghausen's disease). These freckles occur in up to 30% of people with the disease and their presence is one of six diagnostic criteria for neurofibromatosis. Freckles can also be present in the ...
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 ...
Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17. [5] [6] [7] NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras -bound GTP. [5] [6] [8] NF1 has a high mutation rate and mutations in NF1 can alter cellular growth control ...
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