“Transforming the beast to a beauty”- Fifteen years into the making - Case report of congenital neurofibromatosis

• Type of Material: Article
• Authors: Smilja Tudzarova-Gjorgova, Ss. Cyril and Methodius University of Skopje; Sandra Gjorgova Gjeorgjievski, Emory University; Boro Ilievski, Ss. Cyril and Methodius University of Skopje
• Language: English
• Date: 2019-02-15
• Publisher: Macedonian Journal
• Publication Version: Final Published Version
• Copyright Statement: © 2019 Smilja Tudzarova-Gjorgova, Sandra Gjorgova-Gjeorgjievski, Boro Ilievski
• License: Creative Commons Attribution-NonCommercial 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3889/oamjms.2019.126
• Title of Journal or Parent Work: Open Access Macedonian Journal of Medical Sciences
• Volume: 7
• Issue: 3
• Start Page: 388
• End Page: 391
• Grant/Funding Information: This research did not receive any financial support
• Keywords: Recklinghausen; Madelung’s disease; Neurofibromatosis
• Research Categories: Health Sciences, Medicine and Surgery; Biology, Neuroscience

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 disease”. 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.