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References 1. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: A multidisciplinary approach to care. The Lancet. Neurology. 2014;13(8):834-843. 2. Rasmussen JM, Friedman S. NF1 gene and neurofibromatosis 1. American Journal of Epidemiology. 2000;151:33-40. 3. S Melmed, K Polonsky, P Larsen, H Kronenberg. Williams textbook of endocrinology: 12th ed. Philadelphia, Saunders Elsevier 2012;555-567. 4. Oates E, Bankoff MS, Vogelzang PJ. Parathyroid adenoma associated with neurofibromatosis: correlative scintigraphic and magnetic resonance imaging. Clin Nucl Med. 1989

REFERENCES 1. Ghalayani P, Saberi Z, Sardari F. Neurofibromatosis type I (von Recklinghausen’s disease): a family case report and literature review. Dent Res J (Isfahan). 2012;9:483-8. 2. Dadlani R, Sadanand V, Ghosal N, Hegde SH. Congenital giant plexi-form neurofibroma with occipital calvarial dysplasia in association with meningoencephalocele in neurofibromatosis Type 1 and segmental neurofibromatosis. J Neurosurg Pediatrics. 2013;12:458-64. 3. Diggs-Andrews KA, Gutmann DH. Modeling cognitive dysfunction in neurofibromatosis-1. Trends Neurosci. 2013

. Preliminary experience with the combined use of recombinant bone morphogenetic protein and bisphosphonates in the treatment of congenital pseudarthrosis of the tibia. J Children’s Orthop. 2010; 4:507-17. 5. Granchi D, Devescovi V, Baglio SR, Magnani M, Donzelli O, Baldini N. A regenerative approach for bone repair in congenital pseudarthrosis of the tibia associated or not associated with type 1 neurofibromatosis: correlation between laboratory findings and clinical outcome. Cytotherapy. 2012; 14: 306-14. 10.3109/14653249.2011.627916 6. Petramala L, Giustini S, Zinnamosca L

References [1] Blazo MA, Lewis RA, Chintagumpala MM, Frazier M, Mc-Cluggage C Plon SE. Outcomes of systematic screening for optic pathway tumors in children with neurofibroma-tosis type 1. Am J Med Genet. 2004;127A:224-229. [2] Bolcekova A, Nemethova M, Zatkova A Hlinkova K, Pozgayova S, Hlavata A, Kadasi L, Durovcikova D, Gerinec A, Husakova K, Pavlovicova Z, Holobrada M, Kovacs L, Ilencikova D. Clustering of mutations in the 5’ tertile of the NF1 gene in Slovakia patients with optic pathway glioma, Neoplasma. 2013;60 (6):655-65. [3] Brown EW, Riccardi VM, Mawad

Abbreviations NFs - neufibromatoses NF1 - neurofibromatosis 1 NIH - National Institutes of Health CALMs - “caffe au lait macules” Kb – kilobase GTPase - guanosine triphosphatase TNF - tumor necrosis factor RTG – X-ray CT – computed tomography References 1. Irvine AD, Mellerio JE. Genetics and genodermatoses. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology. 8 th ed. Oxford: Blackwell Publishing Ltd; 2010. p. 15.1-15.97. 2. Sehgal VN, Verma P, Chatterjee K. Type 1 neurofibromatosis (von Recklinghausen disease). Cutis 2015

References 1. Karwacki MW, Wozniak W. Neurofibromatosis: an inborn genetic disorder with susceptibility to neoplasia. Med Wieku Rozwoj 2006;10(3 Pt 2):923-48. 2. Zoller M, Rembeck B, Akesson HO, Angervall L. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 1995;75(2):136-40. 3. Wang Z, Liu Y. Research update and recent developments in the management of scoliosis in neurofibromatosis type 1; Orthopedics2010;33(5):335-41. 4. Sorensen SAMJ

REFERENCES 1. Peltonen S, Kallionpää RA, Peltonen J. Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas. Exp Dermatol 2017;26(7):645-648. 2. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol 2009; 61(1): 1-16. 3. von Recklinghausen FD. Über die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Festschrift für Rudolf Virchow. Berlin, 1882. 4. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007

Introduction Neurofibromatosis type 1 (NF1) [MIM# 162200] is a rare, autosomal dominant neurocutaneous disease. Neuro-fibromatosis type 1 manifests with neurofibroma (fibromatous skin tumors), café-au-lait spots and skin fold freckling [ 1 ]. Neurofibromatosis type 1 patients usually present with extreme inter- and intra-familial phenotypic variability with an incidence of 1/3500 live births [ 1 ]. Germline mutations in the NF 1 gene causes NF 1. The NF 1 gene encodes neurofibromin consisting of 2818 amino acids, highly expressed in neurons and different

References 1. Rasmussen SA, Friedman JM: NF1 gene and neurofibromatosis. Am J Epidemiol 2000, 151: 33-40 2. Reynolds RM, Browning GG, Nawroz I, Campbell IW: Von Recklinghausen’s neurofibromatosis: Neurofibromatosis type 1. Lancet 2003, 361: 1552 3. Fuller CE, Williams GT: Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen’s disease). Histopathology 1991, 19: 1 4. Takazawa Y, Sakurai S, Sakuma Y, Ikeda T, Yamaguchi J, Hashizume Y, Yokoyama S, Motegi A, Fukayama M: Gastrointestinal stromal tumors of neurofibromatosis type I (von

Introduction Neurofibromatosis type 1 (NF1) is one of the most common genetically determined disease and is characterized by 5–15% higher risk of malignant tumor formation than the general population [ 1 ]. The NF1-associated NF1 gene is the tumor suppressor gene. The mutations occurring in NF1-patients cause the inactivation of the gene, predisposing to certain types of tumors arising from the embryonic neural crest [ 2 , 3 ]. Therefore, there is an association between NF1 and the following malignancy: gliomas, malignant peripheral nerve sheath tumors (MPNSTs