Neoplastic Process
neurofibromatosis 1
Subclass of:
Peripheral Nervous System Diseases;
Neurofibromatoses
Definitions related to neurofibromatosis 1:
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An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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(neurofibromatosis type 1) A rare genetic condition that causes brown spots and tumors on the skin, freckling in skin areas not exposed to the sun, tumors on the nerves, and developmental changes in the nervous system, muscles, bone, and skin.NCI Dictionary of Cancer TermsU.S. National Cancer Institute, 2021
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(neurofibromatosis type 1) An autosomal dominant form of neurofibromatosis caused by mutation(s) in the NF1 gene, encoding neurofibromin. The clinical features of this condition may include smooth bordered areas of hyperpigmentation, known as cafe-au-lait spots, axillary freckling, Lisch nodules, short stature, cutaneous and subcutaneous tumors (neurofibromas), optic nerve gliomas, precocious puberty, and growth hormone excess.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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(neurofibromatosis type 1) The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.NCI ThesaurusU.S. National Cancer Institute, 2021
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Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that commonly is associated with cutaneous, neurologic, and orthopedic manifestations. It is the most frequent of the so-called hamartoses.WebMD, 2019
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Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). The main signs and symptoms of NF1 include dark colored spots on the skin (cafe-au-lait spots), benign growths along the nerves (neurofibromas), and...National Center for Advancing Translational Sciences
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Neurofibromatosis, type 1 (NF1) is an autosomal-dominant genetic disorder with the defining features of caf� au lait spots, multiple neurofibromas, and iris Lisch nodules. Almost always, additional manifestations are present, including those involving the skin, CNS, peripheral nerves, bones, GI tract, vasculature, and endocrine system....Athenahealth, Inc., 2019
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