 Neurofibromatosis 1
"Neurofibromatosis 1" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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).
| Descriptor ID |
D009456
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| MeSH Number(s) |
C04.557.580.600.580.590.650 C04.700.645.650 C10.562.600.500 C10.574.500.549.400 C10.668.829.675 C16.320.400.560.400 C16.320.700.645.650
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| Concept/Terms |
Neurofibromatosis 1- Neurofibromatosis 1
- Neurofibromatosis I
- Neurofibromatosis, Peripheral, NF 1
- Neurofibromatosis, Peripheral, NF1
- Neurofibromatosis, Type 1
- Type 1 Neurofibromatosis
- Neurofibromatosis, Type I
- Neurofibromatoses, Type I
- Type I Neurofibromatoses
- NF1 (Neurofibromatosis 1)
- Peripheral Neurofibromatosis
- Neurofibromatoses, Peripheral
- Neurofibromatosis, Peripheral
- Peripheral Neurofibromatoses
- Recklinghausen Disease of Nerve
- Recklinghausen's Disease of Nerve
- Recklinghausen Disease, Nerve
- Recklinghausens Disease of Nerve
- von Recklinghausen Disease
- von Recklinghausen's Disease
- von Recklinghausens Disease
- Neurofibromatosis, Peripheral Type
- Neurofibromatosis Type 1
- Type 1, Neurofibromatosis
- Neurofibromatosis Type I
- I, Neurofibromatosis Type
- Type I, Neurofibromatosis
Watson Syndrome- Watson Syndrome
- Syndrome, Watson
- Pulmonic Stenosis with Cafe-au-Lait Spots
- Pulmonic Stenosis with Cafe au Lait Spots
- Cafe-au-Lait Spots with Pulmonic Stenosis
- Cafe au Lait Spots with Pulmonic Stenosis
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Below are MeSH descriptors whose meaning is more general than "Neurofibromatosis 1".
Below are MeSH descriptors whose meaning is more specific than "Neurofibromatosis 1".
This graph shows the total number of publications written about "Neurofibromatosis 1" by people in UAMS Profiles by year, and whether "Neurofibromatosis 1" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2024 | 3 | 0 | 3 | | 2023 | 10 | 0 | 10 | | 2020 | 1 | 0 | 1 | | 2019 | 3 | 0 | 3 | | 2018 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2010 | 2 | 0 | 2 | | 2009 | 1 | 0 | 1 | | 2006 | 1 | 0 | 1 | | 2004 | 0 | 1 | 1 | | 2003 | 1 | 0 | 1 | | 1998 | 1 | 0 | 1 | | 1997 | 1 | 0 | 1 | | 1991 | 1 | 0 | 1 | | 1989 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Neurofibromatosis 1" by people in Profiles over the past ten years.
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Lin MJ, Yao H, Vera K, Patel E, Johnson M, Caroline P, Ramos J, Mehta J, Hu X, Blakeley JO, Romo CG, Sarin KY. Cutaneous Neurofibromas and Quality of Life in Adults With Neurofibromatosis Type 1. JAMA Dermatol. 2024 Oct 01; 160(10):1091-1098.
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Lau JCL, Fleming J, Good M, Lim A, Saunderson RB, Phan TA, Schlub T, Siow SF, Lacson N, Romo C, Blakely J, Bergqvist C, Berman YD. Comparing 3D imaging devices for the measurement of cutaneous neurofibromas in patients with Neurofibromatosis Type 1. Skin Res Technol. 2024 Sep; 30(9):e70020.
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Romo CG, Sarin KY, Blakeley JO. Toward risk stratification and personalized therapy for neurofibromas in?neurofibromatosis type 1. Br J Dermatol. 2024 01 23; 190(2):145-146.
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Debs P, Belzberg A, Blakeley J, Fayad L, Langmead S, Little E, Romo C, Schatz K, Slobogean B, Ahlawat S. Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution. Skeletal Radiol. 2024 May; 53(5):909-916.
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Romo CG, Piotrowski AF, Campian JL, Diarte J, Rodriguez FJ, Bale TA, Dahiya S, Gutmann DH, Lucas CG, Prichett L, Mellinghoff I, Blakeley JO. Clinical, histological, and molecular features of gliomas in adults with neurofibromatosis type 1. Neuro Oncol. 2023 08 03; 25(8):1474-1486.
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Blakeley JO, Le LQ, Lee SY, Ly I, Rhodes SD, Romo CG, Sarin KY, Staedtke V, Steensma MR, Wolkenstein P. A Call for Discovery and Therapeutic Development for Cutaneous Neurofibromas. J Invest Dermatol. 2023 08; 143(8):1351-1357.
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Li Y, Blakeley JO, Ly I, Berman Y, Lau J, Wolkenstein P, Bergqvist C, Jia W, Milner TE, Katta N, Durkin AJ, Kennedy GT, Rowland R, Romo CG, Fleming J, Kelly KM. Current and Emerging Imaging Techniques for Neurofibromatosis Type 1-Associated Cutaneous Neurofibromas. J Invest Dermatol. 2023 08; 143(8):1397-1405.
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Staedtke V, Topilko P, Le LQ, Grimes K, Largaespada DA, Cagan RL, Steensma MR, Stemmer-Rachamimov A, Blakeley JO, Rhodes SD, Ly I, Romo CG, Lee SY, Serra E. Existing and Developing Preclinical Models for Neurofibromatosis Type 1-Related Cutaneous Neurofibromas. J Invest Dermatol. 2023 08; 143(8):1378-1387.
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Jiang C, McKay RM, Lee SY, Romo CG, Blakeley JO, Haniffa M, Serra E, Steensma MR, Largaespada D, Le LQ. Cutaneous Neurofibroma Heterogeneity: Factors that Influence Tumor Burden in Neurofibromatosis Type 1. J Invest Dermatol. 2023 08; 143(8):1369-1377.
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Ly I, Romo CG, Gottesman S, Kelly KM, Kornacki D, York Z, Lee SY, Rhodes SD, Staedtke V, Steensma MR, Blakeley JO, Wolkenstein P. Target Product Profile for Cutaneous Neurofibromas: Clinical Trials to Prevent, Arrest, or Regress Cutaneous Neurofibromas. J Invest Dermatol. 2023 08; 143(8):1388-1396.
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Rhodes SD, McCormick F, Cagan RL, Bakker A, Staedtke V, Ly I, Steensma MR, Lee SY, Romo CG, Blakeley JO, Sarin KY. RAS Signaling Gone Awry in the Skin: The Complex Role of RAS in Cutaneous Neurofibroma Pathogenesis, Emerging Biological Insights. J Invest Dermatol. 2023 08; 143(8):1358-1368.
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Gelikman DG, Bhupalam V, Birusingh RJ, Ellsworth P, Seth A. Solitary Intrascrotal Plexiform Neurofibroma in a 10-Year-Old Male. Urology. 2023 08; 178:143-146.
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Debs P, Fayad LM, Romo CG, Ahlawat S. Whole body MRI with DWI in people with NF1 and Schwannomatosis: Are qualitative and quantitative imaging features of peripheral lesions comparable to localized MRI? Eur J Radiol. 2023 May; 162:110802.
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Polster SP, Dougherty MC, Zeineddine HA, Lyne SB, Smith HL, MacKenzie C, Pytel P, Yang CW, Tonsgard JH, Warnke PC, Frim DM. Dural Ectasia in Neurofibromatosis 1: Case Series, Management, and Review. Neurosurgery. 2020 05 01; 86(5):646-655.
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Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cort?s FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hern?ndez-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315.
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Rodriguez FJ, Graham MK, Brosnan-Cashman JA, Barber JR, Davis C, Vizcaino MA, Palsgrove DN, Giannini C, Pekmezci M, Dahiya S, Gokden M, No? M, Wood LD, Pratilas CA, Morris CD, Belzberg A, Blakeley J, Heaphy CM. Telomere alterations in neurofibromatosis type 1-associated solid tumors. Acta Neuropathol Commun. 2019 08 28; 7(1):139.
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Ritter A, Cuddapah S, Degenhardt K, Kasperski S, Johnson MP, O'Connor MJ, Ahrens-Nicklas R. Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature. Am J Med Genet A. 2019 06; 179(6):1042-1046.
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Palsgrove DN, Brosnan-Cashman JA, Giannini C, Raghunathan A, Jentoft M, Bettegowda C, Gokden M, Lin D, Yuan M, Lin MT, Heaphy CM, Rodriguez FJ. Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association. Mod Pathol. 2018 12; 31(12):1787-1800.
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Goyal S, Park A, Zeglam A, Brown H, Pemberton JD. Choroidal Ganglioneuroma and Orbital Plexiform Neurofibroma Presenting as Buphthalmos in an Infant With Neurofibromatosis Type 1. Ophthalmic Plast Reconstr Surg. 2016 Jul-Aug; 32(4):e87-9.
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