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Journal articles on the topic 'Neurofibromatosis 1 And 2'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Batista, Pollyanna Barros, Eny Maria Goloni Bertollo, Danielle de Souza Costa, et al. "Neurofibromatosis: part 2 – clinical management." Arquivos de Neuro-Psiquiatria 73, no. 6 (2015): 531–43. http://dx.doi.org/10.1590/0004-282x20150042.

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Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifes

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2

Rodrigues, Luiz Oswaldo Carneiro, Pollyanna Barros Batista, Eny Maria Goloni-Bertollo, et al. "Neurofibromatoses: part 1 ? diagnosis and differential diagnosis." Arquivos de Neuro-Psiquiatria 72, no. 3 (2014): 241–50. http://dx.doi.org/10.1590/0004-282x20130241.

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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, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialist

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3

Mulvihill, John J. "Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis)." Annals of Internal Medicine 113, no. 1 (1990): 39. http://dx.doi.org/10.7326/0003-4819-113-1-39.

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4

Pollack, Ian F., and Jonn J. Mulvihill. "Neurofibromatosis 1 and 2." Brain Pathology 7, no. 2 (1997): 823–36. http://dx.doi.org/10.1111/j.1750-3639.1997.tb01067.x.

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5

Sanchez, Lauren D., Ashley Bui, and Laura J. Klesse. "Targeted Therapies for the Neurofibromatoses." Cancers 13, no. 23 (2021): 6032. http://dx.doi.org/10.3390/cancers13236032.

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Over the past several years, management of the tumors associated with the neurofibromatoses has been recognized to often require approaches that are distinct from their spontaneous counterparts. Focus has shifted to therapy aimed at minimizing symptoms given the risks of persistent, multiple tumors and new tumor growth. In this review, we will highlight the translation of preclinical data to therapeutic trials for patients with neurofibromatosis, particularly neurofibromatosis type 1 and neurofibromatosis type 2. Successful inhibition of MEK for patients with neurofibromatosis type 1 and progr

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6

Reynolds, RM, GGP Browning, I. Nawroz, and IW Campbell. "Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1." Lancet 361, no. 9368 (2003): 1552–54. http://dx.doi.org/10.1016/s0140-6736(03)13166-2.

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7

Yehouenou Tessi, Romeo Thierry, Chaimae Lahlou, Soufiane Rostoum, Siham El Haddad, Nazik Allali, and Latifa Chat. "A supraclavicular mass with skin macules «café-au-lait»: Neurofibromatosis 1." International Journal of Case Reports and Images 14, no. 2 (2023): 57–62. http://dx.doi.org/10.5348/101411z01rt2023cr.

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Neurofibromatosis type 1 is a genetic disorder representing one of the most common forms of Von Recklinghausen’s disease. The neurofibromatoses are a group of heterogeneous, yet distinct, autosomal-dominant inherited neurogenetic disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. It is characterized by a large clinical polymorphism with the development of «café-au-lait» skin spots, benign tumors affecting the skin, peripheral nerves, optic pathway, and can involve the brain, bones, and vessels. We report the case of an 8-year-old child w

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8

Flexon, Phillip B., Joseph B. Nadol, William W. Montgomery, Harold F. Schuknecht, and Robert L. Martuza. "Bilateral Acoustic Neurofibromatosis (Neurofibromatosis 2): A Disorder Distinct from Von Recklinghausen's Neurofibromatosis (Neurofibromatosis 1)." Annals of Otology, Rhinology & Laryngology 100, no. 10 (1991): 830–34. http://dx.doi.org/10.1177/000348949110001008.

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9

Borofsky, S., and L. M. Levy. "Neurofibromatosis: Types 1 and 2." American Journal of Neuroradiology 34, no. 12 (2013): 2250–51. http://dx.doi.org/10.3174/ajnr.a3534.

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10

Yohay, Kaleb. "Neurofibromatosis Types 1 and 2." Neurologist 12, no. 2 (2006): 86–93. http://dx.doi.org/10.1097/01.nrl.0000195830.22432.a5.

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11

North, Kathryn. "Neurofibromatosis Type 1." American Journal of Medical Genetics 97, no. 2 (2000): 119–27. http://dx.doi.org/10.1002/1096-8628(200022)97:2<119::aid-ajmg3>3.0.co;2-3.

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12

Ferner, Rosalie E. "Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective." Lancet Neurology 6, no. 4 (2007): 340–51. http://dx.doi.org/10.1016/s1474-4422(07)70075-3.

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13

Viskochil, Dave. "Neurofibromatosis 1." American Journal of Medical Genetics 89, no. 1 (1999): v—viii. http://dx.doi.org/10.1002/(sici)1096-8628(19990326)89:13.0.co;2-i.

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14

Halliday, Andrea L., Raymond A. Sobel, and Robert L. Martuza. "Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2." Journal of Neurosurgery 74, no. 2 (1991): 248–53. http://dx.doi.org/10.3171/jns.1991.74.2.0248.

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✓ Benign spinal nerve sheath tumors (neurofibromas and schwannomas) often occur on dorsal nerve roots sporadically or in neurofibromatosis types 1 and 2. These are histologically benign tumors, and distinction between them is frequently not made by clinicians. To determine if there is a correlation between the histological pattern of benign spinal nerve sheath tumors and the type of neurofibromatosis, the clinical and pathological features of these tumors (86 surgical specimens and five autopsies) in 68 patients were reviewed. The patients were classified into one of four categories: neurofibr

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15

Leśniewski, Michał, Iwona Welian-Polus, Izabela Oleksak, and Karolina Maliszewska. "Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2." Journal of Education, Health and Sport 63 (February 24, 2024): 168–81. http://dx.doi.org/10.12775/jehs.2024.63.013.

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Neurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous system. Neurofibromatosis type 1, or Recklinghausen's disease, is the most common phakomatosis. The disease is genetically determined by a mutation of the neurofibromin- 1 gene on chromosome 17. Neurofibromatosis type 2 accounts for 3% of all cases. The disease is genetically determined - caused by a mutation of the neurofibromin-2 gene on chro

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16

Ardern-Holmes, Simone, Gemma Fisher, and Kathryn North. "Neurofibromatosis Type 2." Journal of Child Neurology 32, no. 1 (2016): 9–22. http://dx.doi.org/10.1177/0883073816666736.

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Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally. Schwannomas commonly occur on other nerves intracranially and in the spinal compartment, along with meningiomas, ependymomas, and gliomas. Although histologically benign, tumors are associated with significant morbidity due to multiple problems including hearing and vision loss,

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17

Gutmann, David H., and Marco Giovannini. "Mouse Models of Neurofibromatosis 1 and 2." Neoplasia 4, no. 4 (2002): 279–90. http://dx.doi.org/10.1038/sj.neo.7900249.

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18

Constant, Errikos. "The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2." Plastic & Reconstructive Surgery 102, no. 5 (1998): 1796. http://dx.doi.org/10.1097/00006534-199810000-00135.

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19

Aylsworth, A., JC Carey, B. Korf, et al. "The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2." American Journal of Ophthalmology 124, no. 5 (1997): 718–19. http://dx.doi.org/10.1016/s0002-9394(14)70930-4.

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20

Gutmann, David H. "The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2." JAMA: The Journal of the American Medical Association 278, no. 1 (1997): 51. http://dx.doi.org/10.1001/jama.1997.03550010065042.

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21

Gutmann, D. H. "The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2." JAMA: The Journal of the American Medical Association 278, no. 1 (1997): 51–57. http://dx.doi.org/10.1001/jama.278.1.51.

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22

Mantoglu, Baris, Burak Kamburoglu, Ismail Zengin, et al. "Coexistence of Neurofibromatosis Type 1 and Male Breast Cancer." Archives of Iranian Medicine 24, no. 11 (2021): 852–55. http://dx.doi.org/10.34172/aim.2021.126.

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Breast cancer is one of the rarest types of cancer in men. Its incidence increases with age, as in women. Neurofibromatosis type 1 is an autosomal dominant genetic disease that predisposes to many cancer types. Neurofibromatosis and breast cancer have been more frequently distinguished and better studied in women. Characteristically, estrogen, progesterone receptors, negative, and overexpression of human epidermal growth factor receptor 2 (HER2) are detected in patients with female neurofibromatosis breast cancers. In cases reported so far, estrogen and progesterone receptors have been evaluat

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23

Alonso, G., D. Fernández-García, and P. Rozas-Moreno. "Neurofibromatosis tipo 1 y feocromocitoma." Hipertensión 22, no. 7 (2005): 302. http://dx.doi.org/10.1016/s0212-8241(05)71577-2.

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24

Büki, Gergely, Ágnes Till, Anna Zsigmond, Judit Bene, and Kinga Hadzsiev. "Neurofibromatosis-1 microdeletiós szindróma." Orvosi Hetilap 163, no. 51 (2022): 2041–51. http://dx.doi.org/10.1556/650.2022.32673.

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Az 1-es típusú neurofibromatosis autoszomális domináns öröklésmenetet mutató, klinikailag rendkívül heterogén neurocutan kórkép, amelynek kialakulásában elsődlegesen az NF1-gén intragenikus funkcióvesztéses mutációi játszanak szerepet. Ugyanakkor a molekuláris diagnosztika fejlődésének köszönhetően egyre több esetben sikerül kimutatni az NF1-gént és az azzal szomszédos régiókat érintő kópiaszámbeli variánsokat. Genotípus-fenotípus elemzések alapján a pontmutációs eltérések okozta 1-es típusú neurofibromatosis, illetve a microdeletiós eltérések okozta, ún. 17q11.2 microdeletiós szindróma elkülö

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25

Bhardwaj, Ashu, and Ajay Mahajan. "Gingival Enlargement in Neurofibromatosis Type 1: A Case Report and Literature Review." Journal of Contemporary Dental Practice 11, no. 2 (2010): 57–63. http://dx.doi.org/10.5005/jcdp-11-2-57.

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Abstract Aim The purpose of this article is to describe a rare case of neurofibromatosis1 (NF1) of the gingiva and a review of the current literature. Background Neurofibromatosis1 (NF1) of the gingiva is an uncommon cause of gingival enlargement. The disease is clinically characterized by epidermal melanosis, nevi, and flabby skin or bone malformations; in addition, the lesions may undergo malignant transformation. Involvement of the gingiva with or without concurrent skin lesions has been reported only occasionally. Case Description A 40-year-old male patient with a history of NF1 came to us

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26

Ardizzone, Alessio, Anna Paola Capra, Michela Campolo, Alessia Filippone, Emanuela Esposito, and Silvana Briuglia. "Neurofibromatosis: New Clinical Challenges in the Era of COVID-19." Biomedicines 10, no. 5 (2022): 940. http://dx.doi.org/10.3390/biomedicines10050940.

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Rare diseases constitute a wide range of disorders thus defined for their low prevalence. However, taken together, rare diseases impact a considerable percentage of the world population, thus representing a public healthcare problem. In particular, neurofibromatoses are autosomal-dominant genetic disorders that include type 1 neurofibromatosis (NF1), type 2 neurofibromatosis (NF2) and schwannomatosis. Each of the three types is a genetically distinct disease with an unpredictable clinical course and for which there is still no resolutive cure. Therefore, a personalized therapeutic approach dir

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27

Shaida, A. M., D. G. O’Donovan, and D. A. Moffat. "Schwannomatosis in a child – or early neurofibromatosis type 2." Journal of Laryngology & Otology 116, no. 7 (2002): 551–55. http://dx.doi.org/10.1258/002221502760132692.

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A case of multiple cervical schwannomas in a five-year-old boy, without other evidence of neurofibromatosis type 2, is described. Schwannomatosis is a disorder characterized by the presence of multiple schwannomas in the absence of neurofibromatosis type 2 that has only been recognized in the last 15 years. The clinical and genetic features of neurofibromatosis types 1 and 2 and schwannomatosis are compared and contrasted. This patient with possible schwannomatosis is presented to illustrate the potential pitfalls of making this diagnosis in the paediatric age group and to increase awareness o

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28

Yang, Chao-Chun, Rudolf Happle, Sheau-Chiou Chao, Julia Yu-Yun Lee, and WenChieh Chen. "Giant café-au-lait macule in neurofibromatosis 1: A type 2 segmental manifestation of neurofibromatosis 1?" Journal of the American Academy of Dermatology 58, no. 3 (2008): 493–97. http://dx.doi.org/10.1016/j.jaad.2007.03.013.

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29

Neary, W. J., V. E. Newton, M. Vidler, et al. "A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis." Journal of Laryngology & Otology 107, no. 1 (1993): 6–11. http://dx.doi.org/10.1017/s0022215100121991.

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AbstractThe neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of cafe-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades.Ten families were personally studied. A total of 16 members were found to

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30

Rodriguez, Diana, and Tina Young Poussaint. "Neuroimaging findings in neurofibromatosis type 1 and 2." Neuroimaging Clinics of North America 14, no. 2 (2004): 149–70. http://dx.doi.org/10.1016/j.nic.2004.03.004.

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31

Ruggieri, Martino, Andrea D. Praticò, Stefano Catanzaro, Stefano Palmucci, and Agata Polizzi. "Did Cro-Magnon 1 have neurofibromatosis type 2?" Lancet 392, no. 10148 (2018): 632–33. http://dx.doi.org/10.1016/s0140-6736(18)31544-7.

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32

Aoki, S., A. J. Barkovich, K. Nishimura, et al. "Neurofibromatosis types 1 and 2: cranial MR findings." Radiology 172, no. 2 (1989): 527–34. http://dx.doi.org/10.1148/radiology.172.2.2501822.

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33

Neary, W. J., V. E. Newton, S. N. Laoide-Kemp, et al. "A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas." Journal of Laryngology & Otology 110, no. 7 (1996): 634–40. http://dx.doi.org/10.1017/s0022215100134486.

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AbstractNinety-three patients with unilateral vestibular schwannomas were examined in a clinical, genetic and audiological study, to determine whether they had features associated with neurofibromatosis Type 1 or neurofibromatosis Type 2. In 91 families, one patient only was found to be affected with a unilateral vestibular schwannoma. Patients did have a few café-au-lait macules, but fewer than six in number. None of the patients satisfied the cutaneous diagnostic criteria for neurofibromatosis Type 1. Neither Lisch nodules nor presenile posterior subcapsular lenticular opacities or cortical

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34

Kayl, Anne E., and Bartlett D. Moore. "Behavioral phenotype of neurofibromatosis, type 1." Mental Retardation and Developmental Disabilities Research Reviews 6, no. 2 (2000): 117–24. http://dx.doi.org/10.1002/1098-2779(2000)6:2<117::aid-mrdd5>3.0.co;2-x.

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35

Raja, Ali I., Gabrielle A. Yeaney, Regina I. Jakacki, Ronald L. Hamilton, and Ian F. Pollack. "Extraventricular neurocytoma in neurofibromatosis Type 1." Journal of Neurosurgery: Pediatrics 2, no. 1 (2008): 63–67. http://dx.doi.org/10.3171/ped/2008/2/7/063.

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Neurocytomas are rare tumors of the central nervous system that are typically located in the ventricular system. The authors report a case of a child with neurofibromatosis Type 1 (NF1) who had a tumor of the optic nerves and chiasm with signal abnormality extending through the diencephalon, as well as an occipital lobe mass, which was presumed to be part of the visual pathway neoplasm. Because the occipital lobe lesion slowly increased in size over time, while the other areas remained stable, a biopsy was performed. Pathological evaluation revealed an extraventricular neurocytoma of extravent

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36

Baldwin, Robert L., and Kenneth LeMaster. "NEUROFIBROMATOSIS-2 AND BILATERAL ACOUSTIC NEUROMAS: DISTINCTIONS FROM NEUROFIBROMATOSIS-1 (VON RECKLINGHAUSEN??S DISEASE)." Otology & Neurotology 10, no. 6 (1989): 439–42. http://dx.doi.org/10.1097/00129492-198911000-00004.

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37

Fisher, Michael J., Allan J. Belzberg, Peter de Blank, et al. "2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis." American Journal of Medical Genetics Part A 176, no. 5 (2018): 1258–69. http://dx.doi.org/10.1002/ajmg.a.38675.

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38

Ferner, Rosalie E., Annette Bakker, Ype Elgersma, et al. "From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis." American Journal of Medical Genetics Part A 179, no. 6 (2019): 1098–106. http://dx.doi.org/10.1002/ajmg.a.61112.

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39

Subbarao, Kakarla. "Neurofibromatosis – Imaging Spectrum." Nepalese Journal of Radiology 2, no. 2 (2013): 1–12. http://dx.doi.org/10.3126/njr.v2i2.7679.

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40

Diallo, Ibrahima Dokal, Zaynab Iraqi Houssaini, Mehdi Tantaoui, et al. "Bone Manifestations of Neurofibromatosis Type 1." Global Pediatric Health 9 (January 2022): 2333794X2211017. http://dx.doi.org/10.1177/2333794x221101771.

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41

Belakhoua, Sarra M., and Fausto J. Rodriguez. "Diagnostic Pathology of Tumors of Peripheral Nerve." Neurosurgery 88, no. 3 (2021): 443–56. http://dx.doi.org/10.1093/neuros/nyab021.

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Abstract Neoplasms of the peripheral nervous system represent a heterogenous group with a wide spectrum of morphological features and biological potential. They range from benign and curable by complete excision (schwannoma and soft tissue perineurioma) to benign but potentially aggressive at the local level (plexiform neurofibroma) to the highly malignant (malignant peripheral nerve sheath tumors [MPNST]). In this review, we discuss the diagnostic and pathologic features of common peripheral nerve sheath tumors, particularly those that may be encountered in the intracranial compartment or in

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42

Frawley, Kieran J., Ralph Cohen, Edward V. O'Loughlin, Kathryn North, and Susan Arbuckle. "Neurofibromatosis of the small intestine mesentery in a child with neurofibromatosis type 1." Journal of Pediatric Surgery 32, no. 12 (1997): 1783–85. http://dx.doi.org/10.1016/s0022-3468(97)90535-2.

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43

Millichap, J. Gordon. "CNS Tumors and Neurofibromatosis." Pediatric Neurology Briefs 3, no. 2 (1989): 9. http://dx.doi.org/10.15844/pedneurbriefs-3-2-1.

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Millichap, J. Gordon. "Neurofibromatosis 1, Thalamic Hyperintensities, and Cognitive Impairment." Pediatric Neurology Briefs 21, no. 10 (2007): 74. http://dx.doi.org/10.15844/pedneurbriefs-21-10-2.

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45

Mustafin, R. N. "Clinical Masks of Neurofibromatosis Type 1." Russian Archives of Internal Medicine 12, no. 2 (2022): 93–103. http://dx.doi.org/10.20514/2226-6704-2021-12-2-93-103.

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46

Friedman, J. M. "Epidemiology of neurofibromatosis type 1." American Journal of Medical Genetics 89, no. 1 (1999): 1–6. http://dx.doi.org/10.1002/(sici)1096-8628(19990326)89:1<1::aid-ajmg3>3.0.co;2-8.

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47

Clementi, M., S. Milani, I. Mammi, S. Boni, C. Monciotti, and R. Tenconi. "Neurofibromatosis type 1 growth charts." American Journal of Medical Genetics 87, no. 4 (1999): 317–23. http://dx.doi.org/10.1002/(sici)1096-8628(19991203)87:4<317::aid-ajmg7>3.0.co;2-x.

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48

Dugoff, Lorraine, and Eva Sujansky. "Neurofibromatosis type 1 and pregnancy." American Journal of Medical Genetics 66, no. 1 (1996): 7–10. http://dx.doi.org/10.1002/(sici)1096-8628(19961202)66:1<7::aid-ajmg2>3.0.co;2-r.

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49

Takahashi, Kazuhiro, Hiroyuki Suzuki, Masahito Hatori, et al. "Reduced Expression of Neurofibromin in the Soft Tissue Tumours Obtained from Patients with Neurofibromatosis Type 1." Clinical Science 88, no. 5 (1995): 581–85. http://dx.doi.org/10.1042/cs0880581.

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1. We analysed the expression of neurofibromin mRNAs, encoded by the gene responsible for neurofibromatosis type 1, and of neurofibromin protein in nine soft tissue tumours by S1 nuclease mapping and Western blot analyses. Four tumours were obtained from patients with neurofibromatosis type 1, comprising two neurofibromas, one fibrolipoma and one malignant schwannoma, and five neurogenic tumours were obtained from non-neurofibromatosis type 1 patients. 2. All tumours, except for a malignant schwannoma, similarly expressed three species of mRNA encoding neurofibromin, an isoform with the insert

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50

Tamura, Ryota. "Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis." International Journal of Molecular Sciences 22, no. 11 (2021): 5850. http://dx.doi.org/10.3390/ijms22115850.

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Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones. There are three types of NF: NF1 accounting for 96% of all cases, NF2 in 3%, and schwannomatosis (SWN) in <1%. The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as a negative regulator of Ras/MAPK and PI3K/mTOR signaling pathways. The NF2 gene is identified on chromosome 22q12, which encodes for merlin, a tumor suppressor pr

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