Neoplastic Process
neurofibromatosis
neu·ro·fi·bro·ma·to·sis [ noo r-oh-fahy-broh-muh-toh-sis, nyoo r- ]
Subclass of:
Heredodegenerative Disorders, Nervous System;
Neoplastic Syndromes, Hereditary;
Neurocutaneous Syndromes;
neurofibroma
Also called:
Recklinghausen's disease; von Recklinghausen's disease
Definitions related to neurofibromatoses:
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(neurofibromas) The presence of multiple cutaneous neurofibromas.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(neurofibromatosis) An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.NCI ThesaurusU.S. National Cancer Institute, 2021
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(neurofibromatosis) Group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas; neurofibromatosis 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., neurofibromatosis 2, neurofibromatosis 3, etc.) have been described.CRISP ThesaurusNational Institutes of Health, 2006
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(neurofibromatosis) Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous. There are three types of neurofibromatosis: Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth.; Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years.; Schwannomatosis causes intense pain. It is the rarest type. Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. NIH: National Institute of Neurological Disorders and StrokeMedlinePlusU.S. National Library of Medicine, 2021
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Neurofibromatosis refers to several related disorders that have overlapping clinical manifestations but that are now understood to have distinct genetic causes. It causes various types of benign or malignant tumors that involve central or peripheral nerves and often causes pigmented skin macules and sometimes other manifestations....Merck & Co., Inc., 2020
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Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.Mayo Foundation for Medical Education and Research
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Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic...National Center for Advancing Translational Sciences
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Neurofibromatosis, either of two hereditary disorders characterized by distinctive skin lesions and by benign, progressively enlarging tumours of the nervous system. Neurofibromatosis type 1, also known as von Recklinghausen's disease, is much the more common of the two disorders and is present in...Encyclopedia Britannica, Inc., 2020
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