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Neurofibromatosis type I (NF-1) is a tumor disorder that is caused by the mutation of a gene on chromosome 17 that is responsible for control of cell division. NF-1 causes tumors along the nervous system and can grow anywhere on the body. NF-1 is one of the most common genetic disorders and is not limited to any persons race or sex there are at least 100,000 people currently in the U.S. who have been diagnosed with NF. Common symptoms of NF-1 include brownish-red spots in the colored part of the eye called Lisch nodules, benign skin tumors called neurofibromas, and larger benign tumors of nerves called plexiform neurofibromas. scoliosis (curvature of the spine), learning disabilities, vision disorders, Mental Disabilities, Multiple café au lait spots and epilepsy. NF-1 was formerly known as von Recklinghausen disease after the researcher (Friedrich Daniel von Recklinghausen) who first documented the disorder. . NF-1 is an age specific disease most signs of NF-1 are visible after birth during infancy but many symptoms of NF-1 occur as the person ages, and has hormonal changes. NF-1 is not to be confused with Proteus syndrome. NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy). In diagnosis it may also be confused with Legius syndrome. ==Signs and symptoms== 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 specialties.〔( "Neurofibromatosis 1: Current Issues in Diagnosis, Therapy, and Patient Management", by David Viskochil MD PhD, Mountain States Genetic Foundation, Denver 2010 )〕〔("Current Therapies for Neurofibromatosis Type 1", by Laura Klesse MD PhD, Mountain States Genetic Foundation, Denver 2010 )〕 The progression of the condition is roughly as follows: # Congenital musculoskeletal disorders may or may not be present # Cutaneous conditions may be observed in early infancy # Small tumors may arise in the retina which can eventually lead to blindness # Learning disabilities may arise in preschool children # Neurofibromas may occur and cause many dependent neurological conditions and cutaneous and skeletal disfigurement # Depression and social anxiety may occur as a result of disabilities caused by the condition # Neurofibromas may transition into cancer which can be fatal The (NF Clinical Program at St. Louis Children's Hospital ) maintains a comprehensive (list of current NF research studies ). 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Neurofibromatosis type I」の詳細全文を読む スポンサード リンク
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