Call for neurofibromatosis specialty care clinics in South Carolina

Almuqbil M, Alshaikh FY, Altwaijri W, Baarmah D, Hommady RH, Alshaikh MY, Alammari F, Alhussain M, Almotawa R, Alqarny F, Kashgari A, Alkhodair R, Alkhater JN, Alkhater LN, Alharthi SA, Alsadi MA, AlRumayyan A (2024) Epidemiology and outcomes of neurofibromatosis type 1 (NF-1): multicenter tertiary experience. J Multidiscip Healthc 17:1303–1314. https://doi.org/10.2147/JMDH.S454921

Article  PubMed  PubMed Central  Google Scholar 

Carrieri D (2011) Neurofibromatosis Type 1 (NF1): Family experiences and healthcare management of a genetic syndrome characterised by a highly uncertain phenotype. [Doctoral dissertation, University of Exeter (United Kingdom)]. Retrieved May 22, 2025, https://ore.exeter.ac.uk/repository/bitstream/handle/10036/3570/CarrieriD_fm.pdf?sequence=2&isAllowed=y

Crawford HA, Barton B, Wilson MJ, Berman Y, McKelvey-Martin VJ, Morrison PJ, North KN (2016) Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care. Clin Genet 89(3):385–391. https://doi.org/10.1111/cge.12627

Article  CAS  PubMed  Google Scholar 

Duke Health (n.d.) Neurofibromatosis. Retrieved May 22, 2025, from https://www.dukehealth.org/pediatric-treatments/pediatric-neurology/neurofibromatosis

Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, ... Kirby A (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 44(2):81–88. https://doi.org/10.1136/jmg.2006.045906

Grossen A, Gavula T, Chrusciel D, Evans A, McNall-Knapp R, Taylor A, ... Desai V (2022) Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience. Neurosurg Focus 52(5):E2. https://doi.org/10.3171/2022.2.FOCUS21776

Lalvani S, Brown RM (2024) Neurofibromatosis Type 1: optimizing management with a multidisciplinary approach. J Multidiscip Healthc 17:1803–1817. https://doi.org/10.2147/JMDH.S362791

Article  PubMed  PubMed Central  Google Scholar 

LaVigne AW, Doss VL, Berizzi D, Johnston FM, Kiess AP, Kirtane KS, ... Viswanathan AN (2024) The History and Future of Multidisciplinary Cancer Care. Semin Radiat Oncol 34(4):441–451. https://doi.org/10.1016/j.semradonc.2024.07.006

Legius E, Brems H (2020) Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism. Childs Nerv Syst 36(10):2285–2295. https://doi.org/10.1007/s00381-020-04771-8

Article  PubMed  Google Scholar 

Mansouri A, Ghadakzadeh S, Maqbool T, Barnett C, Au K, Kongkham P, Bril V, Gelareh Z (2017) Neurofibromatosis clinic: A report on patient demographics and evaluation of the clinic. Can J Neurol Sci 44(5):577–588. https://doi.org/10.1017/cjn.2016.326

Article  PubMed  Google Scholar 

Merker VL, Ma Y, Chibnik LB, Radtke HB, Kelts K, Yohay K., ... Jordan JT (2024) Self-reported access to specialty clinics and receipt of health surveillance among US patients with neurofibromatosis 1: A national survey. medRxiv. https://doi.org/10.1101/2024.08.15.24312077

Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR, ... Stoler JM (2019). Health supervision for children with neurofibromatosis type 1. Pediatrics 143(5):e20190660. https://doi.org/10.1542/peds.2019-0660

Neurofibromatosis Network (2021) Clinical Care Options. Retrieved May 22, 2025, from https://www.nfnetwork.org/understand-nf/nf1-clinical-care-options/

Nishida Y, Ikuta K, Natsume A, Ishihara N, Morikawa M, Kidokoro H, Muramatsu Y, Nonobe N, Ishizuka K, Takeichi T, Kanbe M, Mizuno S, Imagama S, Ozaki N (2021) Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital. Sci Rep 11(1):11933. https://doi.org/10.1038/s41598-021-91345-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Radtke HB, Bergner AL, Goetsch AL, McGowan C, Panzer K, Cannon A (2020) Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis—practice resource of the National Society of Genetic Counselors. J Genet Couns 29(5):692–714. https://doi.org/10.1002/jgc4.1303

Article  PubMed  Google Scholar 

Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K (2018) Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 20(7):671–682. https://doi.org/10.1038/gim.2018.28

Article  PubMed  Google Scholar 

Toledano-Alhadef H, Mautner VF, Gugel I, Zipfel J, Haas-Lude K, Constantini S, Schuhmann MU (2020) Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome. Childs Nerv Syst 36:2279–2284. https://doi.org/10.1007/s00381-020-04708-1

Article  PubMed  PubMed Central  Google Scholar 

UNC Medical Center (n.d.) Neurofibromatosis & Neurocutaneous Disorders. Retrieved May 22, 2025, from https://www.uncmedicalcenter.org/uncmc/care-treatment/neurology/neurofibromatosis-and-neurocutaneous-disorders-/

Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S (2015) Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol 135(3):904–906. https://doi.org/10.1038/jid.2014.465

Article  CAS  PubMed  Google Scholar 

Wolkenstein P, Durand-Zaleski I, Moreno JC, Zeller J, Hemery F, Revuz J (2000) Cost evaluation of the medical management of neurofibromatosis 1: a prospective study on 201 patients. Br J Dermatol 142(6):1166–1170. https://doi.org/10.1046/j.1365-2133.2000.03543.x

Article  CAS  PubMed  Google Scholar 

Yang X, Desai K, Agrawal N, Mirchandani K, Chatterjee S, Sarpong E, Sen S (2021) Characteristics, treatment patterns, healthcare resource use, and costs among pediatric patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas: a retrospective database analysis of a medicaid population. Curr Med Res Opin 37(9):1555–1561. https://doi.org/10.1080/03007995.2021.1940907

Article  PubMed  Google Scholar 

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