2014
DOI: 10.1590/0004-282x20130241
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Neurofibromatoses: part 1 ? diagnosis and differential diagnosis

Abstract: Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psy… Show more

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Cited by 34 publications
(25 citation statements)
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“…1 The diagnostic criteria for NF1 are almost exclusively clinical, and were established by the National Institutes of Health (NIH) Consensus. 2 The most common clinical features of NF1 are café au lait spots, dermal neurofibromas, plexiform neurofibromas, axillary and/or inguinal freckling, Lisch nodules, and bone dysplasia.…”
Section: Introductionmentioning
confidence: 99%
“…1 The diagnostic criteria for NF1 are almost exclusively clinical, and were established by the National Institutes of Health (NIH) Consensus. 2 The most common clinical features of NF1 are café au lait spots, dermal neurofibromas, plexiform neurofibromas, axillary and/or inguinal freckling, Lisch nodules, and bone dysplasia.…”
Section: Introductionmentioning
confidence: 99%
“…These include the presence of bilateral vestibular schwannomas (VS), as was the case in this patient [1][2][3][4]. Her initial manifestation was with bilateral proptosis, possibly due to intraorbital involvement of the III cranial nerves with schwannomata as they are prone to do [2], or else due to meningiomas.…”
Section: Discussionmentioning
confidence: 67%
“…We are not aware of any reports in the literature of the occurrence of hemangioblastomas in the setting of a case of NF2. The genetic basis for these conditions has been well described [1][2][3][4]. This patient presents with a hemangioblastoma in addition to the classic picture of NF2 with bilateral vestibular schwannomas and multiple other tumours around the brain.…”
Section: Discussionmentioning
confidence: 85%
“…Neurofibromatosis type 1 is the most common human monogenetic disease (1:3000, affecting nearly 80,000 Brazilian people) and it exhibits marked phenotype expression variability and an unpredictable course 1,2,3 . Recently, we described decreased muscular strength 4 and lower aerobic capacity in NF1 individuals…”
mentioning
confidence: 99%