“Transforming the Beast to A Beautyâ€- Fifteen Years into the Making - Case Report of Congenital Neurofibromatosis
Abstract
BACKGROUND: In 1882, the German pathologist Friedrich Daniel von Recklinghausen described a series of patients with a combination of cutaneous lesions and tumours of the peripheral and central nervous system. Succeeding this paper, all of the patients with similar symptoms were given the diagnosis “von Recklinghausen diseaseâ€. In the 20th century, a distinction was made between Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) with the help of molecular testing.
CASE REPORT: We are presenting the results from multiple surgical esthetic and reconstructive surgical procedures performed on a female patient with severe congenital neurofibromatosis during 15 years (2000-2015). The external appearance of our patient was not reflected in the general public’s beauty standards. Convinced that she was unusual and unaccepted by the society, she gathered all of the strength and became our patient at 15 years of age.
CONCLUSION: Transforming the patient’s life in the next fifteen years improved her overall health and her life quality.
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References
Gerber PA, Antal AS, Neumann NJ, Homey B, Matuschek C, Peiper M, Budach W, Bölke E. Neurofibromatosis. European journal of medical research. 2009; 14(3):102. PMid:19380279 PMCid:PMC3352057
Brosius S. A history of von Recklinghausen's NF1. J Hist Neurosci. 2010; 19(4):333-48. https://doi.org/10.1080/09647041003642885 PMid:20938857
Anderson JL, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol. 2015; 132:75-86. https://doi.org/10.1016/B978-0-444-62702-5.00004-4 PMid:26564071
Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. Birth incidence and prevalence of tumorâ€prone syndromes: estimates from a UK family genetic register service. American journal of medical genetics Part A. 2010; 152(2):327-32. https://doi.org/10.1002/ajmg.a.33139 PMid:20082463
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):608-14. https://doi.org/10.1542/peds.105.3.608 PMid:10699117
Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997; 278(1):51-7. https://doi.org/10.1001/jama.1997.03550010065042 PMid:9207339
Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988; 45(5):575-8. PMid:3128965
Fletcher CD. WHO Classification of Tumours of Soft Tissue and Bone. World Health Organization, 2013.
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