Large plexiform neurofibroma on right thigh of a farmer in the course of Recklinghausen disease – Case report
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Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Poland
Department of Internal Medicine, Medical University of Lublin, Poland
Department of Dermatology, Venerology and Paediatric Dermatology, Medical University of Lublin, Poland
Department of Clinical Genetics, Medical University of Lublin, Poland
II Department of Medical Radiology, Medical University of Lublin, Poland
Students Research Association, Medical University of Lublin, Poland
J Pre Clin Clin Res. 2014;8(2):109–112
A 59-year-old farmer was admitted to the Department of Trauma Surgery because of pain associated with the presence of a tumour on the side of the right thigh. The patient stated that his biggest problem was great difficulty in moving and handling agricultural machinery due to the aforementioned lesion. On physical examination, the patient presented with numerous cutaneous and subcutaneous neurofibromas, as well as one large plexiform neurofibroma. Diagnosis of Neurofibromatosis type 1 was established, based on National Institutes of Health diagnostic criteria. Moreover, molecular genetic testing found known pathogenic mutation p.Arg1769* in one of the alleles of NF1 gene (heterozygote), typical for Recklinghausen disease. The big plexiform neurofibroma in the patient was not operated on because of lung cancer.
Andrzej Prystupa   
Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Staszica 16, 20-081 Lublin, Poland
1. Savar A, Cestari DM. Neurofibromatosis Type I: Genetics and Clinical Manifestations. Seminars in Ophthalmology. 2008; 23: 45–51.
2. Firth H V, Hurst J A, Hall J G. Oxford desk reference. Clinical genetics. Oxford university press. New York, 2010.
3. http://atlasgeneticsoncology.o....
4. Marchuk D, Saulino A, Tavakkol R, Swaroop M, Wallace M, Anderson L, Mitchell A, Gutmann D, Boguski M, Collins F. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics. 1991; 11:931- 940.
5. (access: 2014.11.20).
6. Yohay K H. The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 2006; 13: 21–26.
7. Dasgupta B, Dugan LL, Gutmann DH. The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase- activating polypeptide-mediated signaling in astrocytes. J Neurosci. 2003; 23: 8949–8954.
8. Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet. 1996; 33: 2–17.
9. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis Type 1 Revisited. Pediatrics. 2009; 123: 124–133.
10. Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe A. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000; 15: 541–555.
11. Korf BR. The phakomatoses. Clinics in Dermatology. 2005; 23: 78–84.
12. National Institutes of Health Consensus Development Conference Statement: Neurofibromatosis. Arch Neurol Chicago. 1988; 45: 575–578.
13. DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000; 105(3 Pt1): 608–614.
14. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009; 61(1): 1–14.
15. Cohen JB, Janniger CK, Schwartz RA. Café-au-lait spots. Cutis. 2000; 66(1): 22–24.
16. Jouhilahti EM, Peltonen S, Heape AM, Peltonen J. The pathoetiology of neurofibromatosis 1. Am J Pathol. 2011; 178(5): 1932–1939.
17. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 (NF1). J Med Genet. 2007; 44: 81–88.
18. Ferner RE. The neurofibromatoses. Pract Neurol. 2010; 10(2): 82–93.
19. Tsao H, Luo S. Neurofibromatosis and Tuberous Sclerosis. In: Bolognia JL, Jorizzo JL, Schaffer JV. Dermatology, 3rd Edition, Philadelphia, Elsevier Saunders, 2012.p.925–933.
20. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007; 6(4): 340–351.