{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T08:46:31Z","timestamp":1777797991804,"version":"3.51.4"},"reference-count":40,"publisher":"Deutscher Arzte-Verlag GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.3238\/arztebl.m2024.0257","type":"journal-article","created":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T10:34:52Z","timestamp":1738751692000},"source":"Crossref","is-referenced-by-count":2,"title":["Age-adapted diagnostic evaluation and treatment of patients with type I neurofibromatosis in Germany"],"prefix":"10.3238","author":[{"given":"Said","family":"Farschtschi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Vaassen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lan","family":"Kluwe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tabea","family":"Hartung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Salamon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thorsten","family":"Rosenbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"11437","published-online":{"date-parts":[[2025,2,7]]},"reference":[{"key":"10.3238\/arztebl.m2024.0257_ref1","doi-asserted-by":"crossref","unstructured":"Huson SM, Compston DA, Clark P, Harper PS: A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704\u201311","DOI":"10.1136\/jmg.26.11.704"},{"key":"10.3238\/arztebl.m2024.0257_ref2","doi-asserted-by":"crossref","unstructured":"Farschtschi S, Mautner VF, Lawson McLean AC, Schulz A, Friedrich RE, Rosahl SK: The neurofibromatoses. Dtsch Arztebl Int 2020; 117: 354\u201360","DOI":"10.3238\/arztebl.2020.0354"},{"key":"10.3238\/arztebl.m2024.0257_ref3","doi-asserted-by":"crossref","unstructured":"Hirbe AC, Gutmann DH: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014; 13: 834\u201343","DOI":"10.1016\/S1474-4422(14)70063-8"},{"key":"10.3238\/arztebl.m2024.0257_ref4","doi-asserted-by":"crossref","unstructured":"DeBella K, Szudek J, Friedman JM: Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000; 105: 608\u201314","DOI":"10.1542\/peds.105.3.608"},{"key":"10.3238\/arztebl.m2024.0257_ref5","doi-asserted-by":"crossref","unstructured":"Legius E, Messiaen L, Wolkenstein P, et al.: Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med 2021; 23: 1506\u201313","DOI":"10.1038\/s41436-021-01170-5"},{"key":"10.3238\/arztebl.m2024.0257_ref6","doi-asserted-by":"crossref","unstructured":"Bergqvist C, Servy A, Valeyrie-Allanore L, Ferkal S, Combemale P, Wolkenstein P: Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis 2020; 15: 37","DOI":"10.1186\/s13023-020-1310-3"},{"key":"10.3238\/arztebl.m2024.0257_ref7","doi-asserted-by":"crossref","unstructured":"Tucker T, Schnabel C, Hartmann M, et al.: Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). J Med Genet 2009; 46: 259\u201365","DOI":"10.1136\/jmg.2008.061895"},{"key":"10.3238\/arztebl.m2024.0257_ref8","doi-asserted-by":"crossref","unstructured":"Heimg\u00e4rtner M, Granstr\u00f6m S, Haas-Lude K, Leark RA, Mautner VF, Lidzba K: Attention deficit predicts intellectual functioning in children with neurofibromatosis type 1. Int J Pediatr 2019; 2019: 9493837","DOI":"10.1155\/2019\/9493837"},{"key":"10.3238\/arztebl.m2024.0257_ref9","doi-asserted-by":"crossref","unstructured":"Uusitalo E, Rantanen M, Kallionp\u00e4\u00e4 RA, et al.: Distinctive cancer associations in patients with neurofibromatosis type 1. J Clin Oncol 2016; 34: 1978\u201386","DOI":"10.1200\/JCO.2015.65.3576"},{"key":"10.3238\/arztebl.m2024.0257_ref10","doi-asserted-by":"crossref","unstructured":"Evans DGR, Baser ME, McGaughran J, Sharif S, Howard E, Moran A: Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet 2002; 39: 311\u20134","DOI":"10.1136\/jmg.39.5.311"},{"key":"10.3238\/arztebl.m2024.0257_ref11","doi-asserted-by":"crossref","unstructured":"Lammert M, Friedman JM, Kluwe L, Mautner VF: Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 2005; 141: 71\u20134","DOI":"10.1001\/archderm.141.1.71"},{"key":"10.3238\/arztebl.m2024.0257_ref12","doi-asserted-by":"crossref","unstructured":"Carton C, Evans DG, Blanco I, et al.: ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClinicalMedicine 2023; 56: 101818","DOI":"10.1016\/j.eclinm.2022.101818"},{"key":"10.3238\/arztebl.m2024.0257_ref13","doi-asserted-by":"crossref","unstructured":"Ferner RE, Huson SM, Thomas N, et al.: Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007; 44: 81\u20138","DOI":"10.1136\/jmg.2006.045906"},{"key":"10.3238\/arztebl.m2024.0257_ref14","doi-asserted-by":"crossref","unstructured":"Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR: Health supervision for children with neurofibromatosis Type 1. Pediatrics 2019; 143: e20190660","DOI":"10.1542\/peds.2019-0660"},{"key":"10.3238\/arztebl.m2024.0257_ref15","doi-asserted-by":"crossref","unstructured":"Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K: Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018; 20: 671\u201382","DOI":"10.1038\/gim.2018.28"},{"key":"10.3238\/arztebl.m2024.0257_ref16","doi-asserted-by":"crossref","unstructured":"Azizi AA, Baumgartner AC, Seidel M, et al.: Neurofibromatose Typ 1: Vorsorgebogen f\u00fcr Kinder und Jugendliche in \u00d6sterreich. Monatsschr Kinderheilkd 2024. www.doi.org\/10.1007\/s00112\u2013024\u201301955\u20133","DOI":"10.1007\/s00112-024-01983-z"},{"key":"10.3238\/arztebl.m2024.0257_ref17","doi-asserted-by":"crossref","unstructured":"Sunder-Plassmann V, Azizi AA, Farschtschi S, et al.: Neurofibromatosis type\u00a01 adult surveillance form for Austria. Wien Klin Wochenschr 2024; doi: 10.1007\/s00508\u2013024\u201302443\u20130. Online ahead of print","DOI":"10.1007\/s00508-024-02443-0"},{"key":"10.3238\/arztebl.m2024.0257_ref18","doi-asserted-by":"crossref","unstructured":"Kluwe L, Siebert R, Gesk S, et al.: Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004; 23: 111\u20136","DOI":"10.1002\/humu.10299"},{"key":"10.3238\/arztebl.m2024.0257_ref19","doi-asserted-by":"crossref","unstructured":"Well L, D\u00f6bel K, Kluwe L, et al.: Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth. PLoS Genet 2021; 17: e1009517","DOI":"10.1371\/journal.pgen.1009517"},{"key":"10.3238\/arztebl.m2024.0257_ref20","doi-asserted-by":"crossref","unstructured":"Pasmant E, Sabbagh A, Spurlock G, et al.: NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 2010; 31: E1506\u201318","DOI":"10.1002\/humu.21271"},{"key":"10.3238\/arztebl.m2024.0257_ref21","doi-asserted-by":"crossref","unstructured":"Schnabel C, Dahm S, Streichert T, Thierfelder W, Kluwe L, Mautner VF: Differences of 25-hydroxyvitamin D3 concentrations in children and adults with neurofibromatosis type 1. Clin Biochem 2014; 47: 560\u20133","DOI":"10.1016\/j.clinbiochem.2014.02.020"},{"key":"10.3238\/arztebl.m2024.0257_ref22","doi-asserted-by":"crossref","unstructured":"Charoenngam N, Wattanachayakul P, Jaroenlapnopparat A, Ungprasert P, Chenbhanich J: Bone mineral density in neurofibromatosis type 1: a systematic review and meta-analysis. Calcif Tissue Int 2023; 113: 166\u201374","DOI":"10.1007\/s00223-023-01094-z"},{"key":"10.3238\/arztebl.m2024.0257_ref23","doi-asserted-by":"crossref","unstructured":"Al-Sharefi A, Javaid U, Perros P, et al.: Clinical presentation and outcomes of phaeochromocytomas\/paragangliomas in neurofibromatosis type 1. Eur Endocrinol 2019; 15: 95\u2013100","DOI":"10.17925\/EE.2019.15.2.95"},{"key":"10.3238\/arztebl.m2024.0257_ref24","doi-asserted-by":"crossref","unstructured":"Sharif S, Moran A, Huson SM, et al.: Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 2007; 44: 481\u20134","DOI":"10.1136\/jmg.2007.049346"},{"key":"10.3238\/arztebl.m2024.0257_ref25","doi-asserted-by":"crossref","unstructured":"Evans DGR, Kallionp\u00e4\u00e4 RA, Clementi M, et al.: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study. Genet Med 2020; 22: 398\u2013406","DOI":"10.1038\/s41436-019-0651-6"},{"key":"10.3238\/arztebl.m2024.0257_ref26","doi-asserted-by":"crossref","unstructured":"Barreto-Duarte B, Andrade-Gomes FH, Arriaga MB, Ara\u00fajo-Pereira M, Cubillos-Angulo JM, Andrade BB: Association between neurofibromatosis type 1 and cerebrovascular diseases in children: a systematic review. PLoS One 2021; 16: e0241096","DOI":"10.1371\/journal.pone.0241096"},{"key":"10.3238\/arztebl.m2024.0257_ref27","doi-asserted-by":"crossref","unstructured":"Sellmer L, Farschtschi S, Marangoni M, et al.: Non-optic glioma in adults and children with neurofibromatosis 1. Orphanet J Rare Dis 2017; 12: 34","DOI":"10.1186\/s13023-017-0588-2"},{"key":"10.3238\/arztebl.m2024.0257_ref28","unstructured":"Agaimy A, Vassos N, Croner RS: Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen\u2018s disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol 2012; 5: 852\u201362."},{"key":"10.3238\/arztebl.m2024.0257_ref29","doi-asserted-by":"crossref","unstructured":"Schulz A, Grafe P, Hagel C, et al.: Neuropathies in the setting of neurofibromatosis tumor syndromes: complexities and opportunities. Exp Neurol 2018; 299: 334\u201344","DOI":"10.1016\/j.expneurol.2017.06.006"},{"key":"10.3238\/arztebl.m2024.0257_ref30","doi-asserted-by":"crossref","unstructured":"Ferner RE, Hughes RA, Hall SM, Upadhyaya M, Johnson MR: Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet 2004; 41: 837\u201341","DOI":"10.1136\/jmg.2004.021683"},{"key":"10.3238\/arztebl.m2024.0257_ref31","doi-asserted-by":"crossref","unstructured":"Bergqvist C, Hemery F, Jannic A, Ferkal S, Wolkenstein P: Lymphoproliferative malignancies in patients with neurofibromatosis 1. Orphanet J Rare Dis 2021; 16: 230","DOI":"10.1186\/s13023-021-01856-8"},{"key":"10.3238\/arztebl.m2024.0257_ref32","doi-asserted-by":"crossref","unstructured":"Niemeyer CM, Flotho C: Juvenile myelomonocytic leukemia: who\u2018s the driver at the wheel? Blood 2019; 133: 1060\u201370","DOI":"10.1182\/blood-2018-11-844688"},{"key":"10.3238\/arztebl.m2024.0257_ref33","doi-asserted-by":"crossref","unstructured":"Sung L, Anderson JR, Arndt C, Raney RB, Meyer WH, Pappo AS: Neurofibromatosis in children with rhabdomyosarcoma: a report from the intergroup rhabdomyosarcoma study IV. J Pediatr 2004; 144: 666\u20138","DOI":"10.1016\/j.jpeds.2004.02.026"},{"key":"10.3238\/arztebl.m2024.0257_ref34","doi-asserted-by":"crossref","unstructured":"Bizzarri C, Bottaro G: Endocrine implications of neurofibromatosis 1 in childhood. Horm Res Paediatr 2015; 83: 232\u201341","DOI":"10.1159\/000369802"},{"key":"10.3238\/arztebl.m2024.0257_ref35","doi-asserted-by":"crossref","unstructured":"Glombova M, Petrak B, Lisy J, Zamecnik J, Sumerauer D, Liby P: Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1. Brain Dev 2019; 41: 678\u201390","DOI":"10.1016\/j.braindev.2019.04.003"},{"key":"10.3238\/arztebl.m2024.0257_ref36","doi-asserted-by":"crossref","unstructured":"Oderich GS, Sullivan TM, Bower TC, et al.: Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007; 46: 475\u201384","DOI":"10.1016\/j.jvs.2007.03.055"},{"key":"10.3238\/arztebl.m2024.0257_ref37","doi-asserted-by":"crossref","unstructured":"Srinivasan A, Krishnamurthy G, Fontalvo-Herazo L, et al.: Spectrum of renal findings in pediatric fibromuscular dysplasia and neurofibromatosis type 1. Pediatr Radiol 2011; 41: 308\u201316","DOI":"10.1007\/s00247-010-1854-9"},{"key":"10.3238\/arztebl.m2024.0257_ref38","doi-asserted-by":"crossref","unstructured":"Celik B, Aksoy OY, Bastug F, Poyrazoglu HG: Renal manifestations in children with neurofibromatosis type 1. Eur J Pediatr 2021; 180: 3477\u201382","DOI":"10.1007\/s00431-021-04144-6"},{"key":"10.3238\/arztebl.m2024.0257_ref39","doi-asserted-by":"crossref","unstructured":"Ahlawat S, Blakeley JO, Langmead S, Belzberg AJ, Fayad LM: Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Skeletal Radiol 2020; 49: 199\u2013219","DOI":"10.1007\/s00256-019-03290-1"},{"key":"10.3238\/arztebl.m2024.0257_ref40","doi-asserted-by":"crossref","unstructured":"Lammert M, Mautner VF, Kluwe L: Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients. BMC Cancer 2005; 5: 16","DOI":"10.1186\/1471-2407-5-16"}],"container-title":["Deutsches \u00c4rzteblatt international"],"original-title":[],"link":[{"URL":"https:\/\/www.aerzteblatt.de\/10.3238\/arztebl.m2024.0257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,5]],"date-time":"2025-02-05T10:36:10Z","timestamp":1738751770000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.aerzteblatt.de\/10.3238\/arztebl.m2024.0257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,7]]},"references-count":40,"URL":"https:\/\/doi.org\/10.3238\/arztebl.m2024.0257","relation":{},"ISSN":["1866-0452"],"issn-type":[{"value":"1866-0452","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,7]]}}}