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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 ...
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 ...
Selumetinib. Selumetinib (INN), [ 13 ] sold under the brand name Koselugo, is a medication for the treatment of children, two years of age and older, with neurofibromatosis type I (NF-1), a genetic disorder of the nervous system causing tumors to grow on nerves. [ 14 ] It is taken by mouth.
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 ...
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.
A new study in mouse models of inflammatory bowel disease (IBD) suggests that common antibiotics may increase the risk of developing a form of IBD by damaging the protective mucus layer of the gut.
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.