Neurofibromatosis refers to several related disorders that have overlapping clinical manifestations, but of which now understood that they have different genetic causes. It causes different kinds of benign or malignant tumors affecting the central or peripheral nervous, and often causing pigmented spots on the skin and sometimes other manifestations. The diagnosis is made clinically. There is no specific treatment, but benign tumors can be removed surgically and malignant tumors (which are less common) can be treated with radiation or chemotherapy.

Neurofibromatosis is a neurocutaneous syndrome (a syndrome with neurological and cutaneous manifestations).

Neurofibromatosis refers to several related disorders that have overlapping clinical manifestations, but of which now understood that they have different genetic causes. It causes different kinds of benign or malignant tumors affecting the central or peripheral nervous, and often causing pigmented spots on the skin and sometimes other manifestations. The diagnosis is made clinically. There is no specific treatment, but benign tumors can be removed surgically and malignant tumors (which are less common) can be treated with radiation or chemotherapy. Neurofibromatosis is a neurocutaneous syndrome (a syndrome with neurological and cutaneous manifestations). Forms There are several types of neurofibromatosis. Neurofibromatosis type 1 (NF1 or von Recklinghausen’s disease) is the most common and occurs from 2500 to 3000 people in the first It causes neurological, cutaneous and sometimes soft tissue and bone changes. The gene for NF1 is to tape 17q11.2 and encodes the synthesis of Neurofibromin; > 1000 mutations have been identified. Although it is an autosomal dominant disorder, 20 to 50% of cases are caused by de novo germ cell mutation. Neurofibromatosis type 2 (NF2) is responsible for 10% of cases and occurs in about 1 of 35,000 persons. It manifests itself primarily as congenital bilateral acoustic neuroma (vestibular schwannoma). The gene for NF2 is on band 22q11 and encodes the synthesis of Merlin, a tumor suppressor; 200 mutations have been identified. Most individuals with NF2 they inherit from one of their parents. Schwannomatose, a rare disorder that is classified as a third type of neurofibromatosis. In 15% of cases of this type is familiar and is associated with a germline mutation in SMARCB1 gene, a tumor suppressor gene, which is located at 22q11.23, very near the NF2 gene. In other cases, the genetic basis is not well understood, but in the tissue of some patients other mutations of the same gene are involved. Two or more schwannomas develop in the peripheral nerves and are sometimes very painful; however, no acoustic neuromas develop. Schwannomatose was formerly regarded as a form of NF2 because multiple schwannomas are found in both diseases; However, the clinical presentation and the genes involved differ from each other is different. Peripheral and central neurofibroma tumors may be peripheral or central. Peripheral tumors are common in NF1 and develop along the course of the peripheral nerves everywhere. The tumors are neurofibromas, which develop from nerve sheath and consist of mixtures of Schwann cells, fibroblasts, neural cells and mast cells. Most appear in adolescence. Occasionally they form into malignant peripheral nerve sheath tumors. There are several forms: Cutaneous neurofibromas are soft and fleshy. Subcutaneous neurofibromas are firm and knotty. The nodular, plexiform neurofibromas can affect the nerves of the spinal nerves. They typically grow through an intervertebral foramen and cause intraspinal and extraspinal tumors (intraspinal Sanduhrtumoren). The intraspinal portion can compress the spinal column. Diffuse plexiform neurofibromas (subcutaneous nodules or amorphous tumor masses from the underlying bone or Schwann cells) can be disfiguring and cause disorders of the distal Neurinoms. These neurofibromas can become malignant. Schwannomas derived from Schwann cells, rarely undergo malignant transformation and can occur anywhere in the body in peripheral nerves. Central tumors have different forms: Optikusgliome: These tumors are pilocytic astrocytomas low grade that may be asymptomatic or can to improve their skills enough to compress the optic nerve and lead to blindness. They occur in younger children; these tumors can be identified generally at the age of 5 years and rarely develop after the age of 10 years. They occur in NF1. Acoustic neuroma (vestibular schwannoma): These tumors can cause dizziness, ataxia, deafness and tinnitus due to compression of the eighth cranial nerve; they sometimes cause facial weakness due to compression of the adjacent seventh nerve. They are the distinguishing feature of NF2. Meningiomas: These tumors develop in some individuals, particularly those with NF2. Symptoms and complaints Type 1 Most patients with neurofibromatosis type 1 are asymptomatic, but some present with neurological deficits or bone abnormalities. > 90% of cases characteristic skin findings are present at birth or develop during childhood. The signs are medium brown spots (cafe-au-lait spots) and freckle-like spots that are distributed throughout the body, the pelvis and the flexor surfaces of the elbows and knees. In late childhood flesh-colored tumors in various sizes and forms appear; their number can vary from a few to thousands. Rarely, plexiform neurofibromas, which leads to an irregularly thickened, distorted structure with grotesque deformities develop. Neurofibromatosis (cafe-au-lait spots and neurofibromas) © Springer Science + Business Media var model = {thumbnailUrl: ‘/ – / media / manual / professional / images / 580 neurofibromatosis-cafe-au-lait spots-and neurofibromas-S174-springer-high_de.jpg lang = en & thn = 0 & mw = 350 ‘, imageUrl:’ / – / media / manual / professional / images / 580 neurofibromatosis-cafe-au-lait spots-and-neurofibromas-S174? ? -springer-high_de.jpg lang = en & thn = 0 ‘, title:’ neurofibromatosis (cafe-au-lait spots and neurofibromas) ‘description:’ u003Ca id = “v37897999 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eDieser patient with NF type 1 has multiple café-au-lait spots (rounded hyperpigmented spots) and neurofibromas (raised nodules). u003c / p u003e u003c / div u003e ‘credits’ © Springer Scie nce + Business Media ‘

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