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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 (NF) refers to a group of three distinct genetic conditions in which tumors grow in the nervous system. [1] The tumors are non-cancerous (benign) and often involve the skin or surrounding bone. [1] Although symptoms are often mild, each condition presents differently. Neurofibromatosis type I (NF1) is typically characterized ...
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 ...
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 ...
Selumetinib is used for the treatment of neurofibromas in those with neurofibromatosis type I (NF-1). [17] This is a rare, progressive condition caused by a mutation or flaw in the gene coding for the protein neurofibromin 1. [14] NF-1 is usually diagnosed in early childhood and appears in an estimated one out of every 3,000 infants. [14]
Schwannomatosis. Schwannomatosis is an extremely rare genetic disorder closely related to the more-common disorder neurofibromatosis (NF). Originally described in Japanese patients, [1] it consists of multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF.
On the contrary, plexiform neurofibromas arise from multiple nerve fascicles and malignant transformation occurs in approximately 10% of cases. [14] They may result in significant morbidity as they may cause organ compression, vascular occlusions, bone destruction, pain and cosmetic issues. Plexiform neurofibromas are seen in 30-50% of patients ...
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